Nemours Biomedical Research
(302) 651-6884
(302) 651-6884
The CLIA-certified Nemours Molecular Diagnostics Lab serves as a pediatric diagnostic center, providing reliable molecular clinical lab services to diagnose more than 30 genetic diseases.
Located at Nemours/Alfred I. duPont Hospital for Children in Wilmington, Del., our lab specializes in molecular diagnosis of neuromuscular diseases including muscular dystrophy, spinal muscular atrophy, Emery Dreifuss muscular dystrophy and Pelizaeus-Merzbacher disease.
Testing is also available for Barth syndrome, Rett syndrome, Pelizaeus-Merzbacher-like disease, Costello syndrome, CFC syndrome, Feingold syndrome and benign hereditary chorea and many others.
Details and pricing for each service are listed below. For more information, please contact Susan Kirwin at (302) 651-6775.
Acrodysostosis 1, with or without hormone resistance
Gene: PRKAR1A
Protein: protein kinase, cyclic adenosine monophosphate (cAMP)-dependent, regulatory type I, alpha
Inheritance Pattern: Autosomal dominant
Testing is performed by sequencing the entire coding region of the PRKAR1A gene. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
Draw one or two 4cc tubes of blood in EDTA/ purple top tube (minimum of 1-2 cc for infants)
Turnaround time: 10-14 business days
MCT8 - Specific Thyroid Hormone Cell Transporter Deficiency
Gene: SLC16A2 (commonly called MCT8)
Protein: Monocarboxylate transporter 8
Inheritance Pattern: X-linked
Testing is performed by sequencing the entire coding region of the MCT8 gene. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
MCT8 is the only gene known to be associated with Allan-Herndon-Dudley syndrome. Differential diagnoses include Pelizaeus-Merzbacher disease and MECP2 duplication syndrome, both of which are available for clinical testing in our lab. This test will only detect mutations in MCT8.
Draw one or two 4cc tubes of blood in EDTA/purple top tube (minimum of 1-2cc for infants)
Turnaround time: 10-14 business days
Gene: APOL1
Protein: Apolipoprotein L-1
APOL1 variants are associated with increased susceptibility to focal segmental glomerulosclerosis (FSGS4; OMIM 612551) when two risk alleles are present.
Focal segmental glomerulosclerosis is clinically associated with:
Individuals of African descent are at a greater risk to develop chronic kidney disease than individuals of European descent. Studies have shown that specific variants in APOL1 confer nearly all of this increased risk. These variants, classified as G1 and G2 are prevalent in African Americans, and have not been identified in European Americans.
APOL1 variants are also associated with increased risk of hypertension-attributed end stage renal disease, sickle cell-associated kidney disease, and shortened graft survival of kidney transplants based on the donor genotype.
Inheritance Pattern: Autosomal recessive
Identification of two risk alleles in one individual is associated with an increased susceptibility to focal segmental glomerulosclerosis and other types of kidney disease.
Some studies indicate that donor kidneys harboring two APOL1 risk variants failed more rapidly after transplantation than those kidneys with zero or one risk variant).
Testing is performed by bi-directional sequencing of exon 6 of APOL1 (NM_145343.2). This test will determine the presence or absence of the G1 and G2 alleles.
Draw one 4cc tube of blood in EDTA/purple top tube (minimum of 1-2cc for infants).
Turnaround time: 10-14 business days
Gene: LMNB1
Protein: lamin-B1
Inheritance pattern: Autosomal dominant
Adult onset autosomal dominant leukodystrophy (ADLD) is caused by a duplication of the LMNB1 gene. One family has been reported in which a large deletion upstream of the LMNB1 gene resulted in ADLD due to overexpression of the lamin-B1 protein. Testing is offered in tiers and can be performed either sequentially or simultaneously. Testing is performed by quantitative multiplex PCR to look for a duplication of LMNB1 or the upstream deletion. Fluorescent primers are used to amplify select exons of the LMNB1 gene or the relevant upstream region, along with several reference genes. The quantity of each PCR product is determined by measuring the intensity of the fluorescence. Copy number is calculated based on the normalized ratio of the targeted regions to each of the reference genes for the patient and controls.
These tests will detect duplications of LMNB1 or the upstream deletion. They will not detect point mutations or smaller deletions or insertions. LMNB1 is the only gene known to be associated with adult onset autosomal dominant leukodystrophy (ADLD). To date (July 2016), no sequence variants of the LMNB1 gene have been identified in association with ADLD.
A negative test does not rule out a genetic cause of a neurologic disorder. There are many other genes associated with different types of neurologic disorders and leukodystrophies. Testing for some of the genes associated with leukodystrophies of childhood onset is available in our lab and can be performed if clinically indicated.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turn-around time: 10-14 business days
CPT Codes and Cost
Additional Information
Gene: ACTL6A; ARID1A; ARID1B; ARID2; DPF2; PHF6; SMARCA2; SMARCA4; SMARCB1; SMARCE1; SOX11
The BAF complex related disorders are caused by gene variants in one of the various subunits of the BAF complex, a chromatin-remodeling complex BRG1-Associated Factor. These overlapping phenotypic disorders have been associated with de novo variants causing syndromic intellectual disability such as Coffin-Siris syndrome (CSS), and Nicolaides-Baraitser syndrome (NCBRS).
Inheritance pattern: autosomal dominant, X-linked
Testing is performed by next generation sequencing of 11 genes associated with these disorders, followed by analysis software alignment to the reference sequences.
A negative test result does not rule out a diagnosis of a BAF-related disorder. Other genes are known to be associated with some of these conditions, and this test will only detect gene variants in the genes listed above. Copy number changes will not be detected through this assay.
Turnaround time: 12-16 weeks
Gene: TAZ (also known as G4.5)
Protein: tafazzin
Inheritance pattern: X-linked
Testing is performed by sequencing of the entire coding region of the TAZ gene. This will detect point mutations, small deletions and small insertions. For females, the assay will not detect a partial or whole gene deletion. For males, a partial or whole gene deletion may appear as failure to amplify a region of the gene.
TAZ is the only gene known to be associated with Barth syndrome. Mutations will be detected by this assay in greater than 99 percent of individuals who fit the clinical description of Barth syndrome.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turnaround time: 10 -14 business days
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress
Gene: NKX2-1
Protein: homeobox protein Nkx-2.1
Inheritance pattern: Autosomal dominant
Testing is performed by sequencing the entire coding region of NKX2-1. This will detect point mutations, small deletions and small insertions. If mutations are detected via sequencing, copy number analysis will be performed to detect a whole or partial gene deletion, since deletions of the entire NKX2-1 gene have been reported in affected individuals.
NKX2-1 is the only gene known to be associated with these specific disorders. However, a negative test result does not rule out a genetic cause of early onset chorea or congenital hypothyroidism. There are other genes associated with other types of movement disorders, as well as other hypothyroid disorders.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days
CASR-related disorders of calcium homeostasis
Gene: CASR
Protein: calcium-sensing receptor
Testing is performed by sequencing the entire coding region of the CASR gene. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
A negative test result does not rule out a diagnosis of a calcium homeostasis disorder. Other genes are known to be associated with some of these conditions, and this test will only detect mutations in CASR.
Draw one or two 4cc tubes of blood in EDTA/purple top tube (minimum of 1-2 cc for infants)
Turnaround time: 10 -14 business days
BRAF
serine/threonine-protein kinase B-raf
KRAS
GTPase KRas
MEK1 (MAP2K1)
dual specificity mitogen-activated protein kinase kinase 1
MEK2 (MAP2K2)
dual specificity mitogen-activated protein kinase kinase 2
Inheritance pattern: Autosomal dominant; all reported cases have been sporadic
Testing can be performed in tiers, moving to the next tier only if the preceding test is negative. Testing can also be performed concurrently, or in any order requested. The following strategy is suggested for cardiofaciocutaneous (CFC) syndrome testing.
Testing will detect point mutations, small deletions and small insertions in the regions of the genes that are analyzed. It will not detect a partial or whole gene deletion or duplication.
A negative test does not completely rule out a diagnosis of CFC syndrome, since it is unclear at this time if all the genes associated with CFC syndrome have been identified. Clinical overlap is seen between CFC syndrome, Noonan syndrome and Costello syndrome. Tests for Noonan syndrome and Costello syndrome are also available in our lab and can be requested if clinically indicated.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days for each gene; about 3-4 weeks for all 3 tiers
Gene: PAX8
Protein: paired box protein Pax-8
Inheritance Pattern: Autosomal dominant with reduced penetrance
Testing is performed by sequencing the entire coding region and the promoter of the PAX8 gene. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
A negative test result does not rule out a genetic cause of congenital hypothyroidism. Other genes are known to be associated with this condition, and this test will only detect mutations in PAX8.
Draw one or two 4cc tubes of blood in EDTA/purple top tube (minimum of 1-2 cc for infants)
Turnaround time: 10-14 business days
Gene: HRAS
Protein: GTPase HRas
Inheritance pattern: Autosomal dominant
Testing is performed by sequencing exons 2 and 3 and the surrounding intronic regions of the HRAS gene. Sequencing of all coding exons can also be performed upon request. This assay will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
HRAS is the only gene known to be associated with Costello syndrome. Sequence analysis of exon 2 detects a mutation in 80 percent to 90 percent of individuals with Costello syndrome. Mutations in other exons have also been reported. A negative test result does not rule out somatic mosaicism of an HRAS mutation, which has been described in individuals with Costello syndrome.
Costello syndrome is one of a group of related disorders caused by abnormal functioning of the Ras-mitogen-activated protein kinase (RAS/MapK) pathway. A negative HRAS test does not rule out all of these disorders, and additional testing may be indicated.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days
Gene: SLITRK6
Protein: SLIT and NTRK-like family, member 6
Inheritance pattern: Autosomal recessive
Testing is performed by sequencing all exons and the surrounding intronic regions of the SLITRK6 gene. This will detect point mutations, small deletions, and small insertions. It will not detect a partial or whole gene deletion or duplication. To date, no large deletions or duplications have been reported.
A negative test result does not rule out a genetic cause of hearing loss. Other genes are known to be associated with hearing loss and this test will only detect mutations in SLITRK6, associated with deafness and myopia syndrome.
Draw one or two 4cc tubes of blood in EDTA/ purple top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days
Gene: DFNB59 /PJVK
Protein: pejvakin
Inheritance pattern: Autosomal recessive
Testing is performed by sequencing all exons and the surrounding intronic regions of the DFNB59 gene. This will detect point mutations, small deletions, and small insertions. It will not detect a partial or whole gene deletion or duplication. To date, no large deletions or duplications have been reported.
A negative test result does not rule out a genetic cause of hearing loss. Other genes are known to be associated with hearing loss and this test will only detect mutations in the DFNB59 gene.
Draw one or two 4cc tubes of blood in EDTA/ purple top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days
Gene: DMD
Protein: dystrophin
Inheritance pattern: X-linked; carrier females may be affected with dilated cardiomyopathy
Testing is performed by multiplex PCR of select exons of the DMD gene. Of the 79 exons in the DMD gene, 47 are amplified. These 47 exons are located throughout the gene and concentrated in regions that are known to be frequently deleted. Deletions that include one or more of these exons will be detected by this assay. Deletions account for 65 percent of the mutations in DMD and 85 percent of the mutations in BMD. This test will not detect large duplications, small deletions or insertions, point mutations or splicing mutations. Our lab does not perform sequencing of the DMD gene.
A negative test result does not rule out a diagnosis of Duchenne or Becker muscular dystrophy, since 15 percent to 35 percent of mutations are nondeletion mutations. There are no other genes known to be associated with Duchenne and Becker muscular dystrophies.
A negative test does not rule out a genetic cause of muscular dystrophy. There are many other genes associated with different types of muscular dystrophy.
Our lab does not perform carrier testing in females for mutations in the DMD gene.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days
Gene: EMD
Protein: emerin
Inheritance pattern: X-linked; carrier females may be affected with cardiac disease.
Testing is performed by sequencing the entire coding region of EMD. This will detect point mutations, small deletions and small insertions. For females, the assay will not detect a partial or whole gene deletion. For males, a partial or whole gene deletion may appear as failure to amplify a region of the gene.
This assay will detect mutations in EMD in greater than 99 percent of individuals with a clear pattern of X-linked inheritance and/or with no emerin detected by immunodetection methods.
A negative test result does not rule out a diagnosis of Emery-Dreifuss muscular dystrophy (EDMD). X-linked EDMD can be caused by mutations in either EMD or FHL1. Autosomal dominant and autosomal recessive forms of EDMD can be caused by mutations in LMNA.
A negative test does not rule out a genetic cause of muscular dystrophy. There are many other genes associated with different types of muscular dystrophy, some of which have features in common with EDMD.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days
Gene: CHRNG
Protein: Acetylcholine receptor subunit gamma
Inheritance pattern: Autosomal recessive
Testing is performed by sequencing the entire coding region and the surrounding intronic regions of the CHRNG gene. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
CHRNG is the only gene known to be associated with Escobar syndrome. Lethal multiple pterygium syndrome has been associated with CHRNG mutations, as well as mutations in the related genes, CHRNA1 and CHRND.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days
LDLR
Low density lipoprotein receptor
PCSK9
Proprotein convertase, subtilisin/kexin-type 9
APOB
Apolipoprotein B
Inheritance pattern: Autosomal co-dominant
Testing is performed by a tiered approach. Tier 1 includes sequencing exons 1-4, 9-11, and 17 of LDLR, exon 7 of PCSK9, and the portion of exon 26 in APOB containing common pathogenic variants. Tier 2 includes sequencing the remaining exons of LDLR and PCSK9, an additional fragment of exon 26 of APOB containing other published pathogenic variants, and deletion/ duplication testing of select exons of LDLR and PCSK9. The sequencing tests will detect point mutations, small deletions, and small insertions. The deletion/ duplication tests may not detect a partial copy number variant, but will detect a whole gene deletion or duplication. Large deletions and duplications in LDLR have been reported.
Draw one or two 4cc tubes of blood in EDTA/purple top tube (minimum of 1-2cc for infants).
Turnaround time: 10-14 business days per tier
Tier 1 CPT Codes: 81401, 81406, 81479 Cost: $370
Tier 2 CPT Codes 81401, 81405, 81406, 81479 x3 Cost: $1,050
Both Tiers CPT Codes: 81401, 81405, 81406 x2, 81479 Cost: $1,420
Known Variant Testing:
LDLR, PCSK9 or APOB CPT Code: 81479 Cost: $225
Gene: GCM2 – glial cells missing 2
Protein: Chorion-specific transcription factor GCMb
Testing is performed by sequencing the entire coding region of the GCM2 gene. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
A negative test result does not rule out a diagnosis of familial isolated hypoparathyroidism (FIH). Other genes are known to be associated with FIH and this test will only detect mutations in GCM2.
Draw one or two 4cc tubes of blood in EDTA/ purple top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days
Due To Cytochrome C Oxidase Deficiency
Gene: SCO2
Protein: Protein SCO2 homolog, mitochondrial
Inheritance pattern: Autosomal recessive
Testing is performed by sequencing the entire coding region (exon 2) and surrounding intronic regions of SCO2. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
A negative test does not rule out a genetic cause of COX deficiency or a neuromuscular disorder, as there are many other genes, both nuclear and mitochondrial, associated with different types of neuromuscular disorders.
Draw one or two 4-cc tubes of blood in EDTA/ purple top tube (minimum of 1-2 cc for infants)
Turnaround time: 10-14 business days
Gene: MYCN
Protein: N-myc proto-oncogene protein
Gene: MIR17HG
Transcript: MIR17-92 cluster (primary transcript for microRNAs MIR17, MIR18, MIR19A, MIR19B, MIR20 and MIR92)
Inheritance pattern: Autosomal dominant
Testing is performed by sequencing exon 1, coding exons 2 and 3, and the surrounding intronic regions of the MYCN gene. Gene dosage by capillary electrophoresis will be performed (on mutation negative samples) to detect a whole or partial gene deletion, since deletions of the entire MYCN gene have been reported in affected individuals.
Gene deletion testing of the MIR17-92 cluster region will be performed by capillary electrophoresis to determine copy number within the MIR17HG gene.
Sequence analysis of MYCN detects mutations in 65 percent of individuals with a clinical suspicion of Feingold syndrome. Deletion testing of MYCN detects another 10 percent. Deletion of MIR17HG accounts for additional cases of Feingold syndrome, but specific detection rate is unknown. MYCN and MIR17HG are the only genes known to be associated with Feingold syndrome. A negative test for both genes does not rule out a diagnosis of Feingold syndrome, since there may be other genes involved.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days per gene
Nonsyndromic sensorineural hearing loss, DFNB1
GJB2
gap junction beta-2 protein (connexin 26)
GJB6
gap junction beta-6 protein (connexin 30)
Gene: ACNT4, ALG1, ALMS1, APOL1, ARGHDIA, ARHGAP24, CD2AP, CD151, CFH, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ7, COQ9, COQ8B, CRB2, CUBN, CYP11B2, CYP24A1, DGKE, EMP2, E2F3, INF2, ITGA3, ITGB4, KANK2, LAMB2, LMX1B, MED28, MEFV, MYH9, MYO1E, NEIL1, NPHS1, NPHS2, PDSS2, PLCE1, PMM2, PTPRO, SCARB2, SMARCAL1, TRPC6, WT1, ZMPSTE24
Steroid Resistant Nephrotic Syndromes (SRNS) are a clinically and genetically diverse group of disorders that can present with proteinuria, edema, hypoalbuminemia and hyperlipidemia. Rare monogenic forms of Focal Segmental Glomerulosclerosis Syndrome (FSGS) and nephrotic syndrome can present with symptoms at birth or may present later in life, including adulthood. Monogenic forms of FSGS, Alport syndrome, nephrotic syndromes, and other rare diseases of the kidney are associated with variants in 46 genes expressed in the podocyte or the glomerular basement membrane. This panel includes both nonsyndromic and syndromic causes of kidney pathology.
As many of these conditions are not steroid or immunosuppression responsive, genetic testing provides key information to physicians to help determine course of treatment. Additionally, identification of a genetic syndrome may indicate additional screening and intervention to prevent secondary complications of the disorder.
Testing is performed by next generation sequencing followed by analysis software alignment to the gene reference transcripts.
A negative test result does not rule out a diagnosis of a nephrotic syndrome disorder. Other genes are known to be associated with some of these conditions, and this test will only detect gene variants in the genes listed above. Copy number changes will not be detected through this assay.
Turnaround time: 12-16 weeks
Testing is performed by sequencing untranslated exon 1, coding exon 2, and the surrounding intronic regions of GJB2. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication. GJB6 is analyzed for the common 309 kb deletion, and coding exon 3 is sequenced.
A negative test result does not rule out a genetic cause of sensorineural hearing loss as there are many other genes associated with this trait. This test will only detect mutations in GJB2 and GJB6.
Draw one or two 4cc tubes of blood in EDTA/ purple top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days
Also known as: McArdle Disease, myophosphorylase deficiency, GSD5
Gene: PYGM
Protein: glycogen phosphorylase, muscle form
Inheritance pattern: Autosomal recessive
Testing is performed by sequencing the entire coding region of PYGM. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication. Partial sequencing of exons 1 and 5 can be carried out; please note on submission form if this tiered approach is being requested.
A negative test result does not rule out a genetic cause of myopathy. There are many other genetic forms of myopathy, and this test will only detect mutations associated with glycogen storage disease type V, caused by deficiency of glycogen phosphorylase, muscle form.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days
Also known as Hypomyelinating Leukodystrophy 5 (HLD5)
Gene: FAM126A (also known as DRCTNNB1A)
Protein: hyccin
Inheritance pattern: Autosomal recessive
Testing is performed by sequencing the entire coding region and intron-exon junctions of FAM126A. This assay will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
A negative test does not rule out a genetic cause of a neurologic disorder. There are many other genes associated with different types of neurologic disorders and leukodystrophies, some of which are available for testing in our laboratory and can be performed if clinically indicated.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turn-around time: 10-14 business days
Gene: RARS
Protein: arginine--tRNA ligase, cytoplasmic
Inheritance pattern: Autosomal recessive
Testing is performed by sequencing the entire coding region and surrounding intronic regions of RARS. This will detect point mutations, small deletions, and small insertions. It will not detect a partial or whole gene deletion or duplication.
A negative test does not rule out a genetic cause of hypomyelinating leukodystrophy. There may be a mutation in a region of the RARS gene not analyzed, or a partial or whole gene deletion or duplication. Mutations in multiple other genes are known to cause other forms of hypomyelinating leukodystrophy. Testing of other genes associated with hypomyelinating leukodystrophy is available in our laboratory and can be performed if clinically indicated.
Draw one or two 4cc tubes of blood in EDTA/purple top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days
Additional Resources
Hypomyelinating Leukodystrophy 11
Gene: POLR1C
Protein: DNA-directed RNA polymerases I and III subunit RPAC1
Clinical Characteristics
Inheritance pattern: Autosomal recessive
What Can Be Learned From This Test
Testing is performed by sequencing all exons and at least 40 base pairs of the surrounding intronic regions of the POLR1C gene. This will detect point mutations, small deletions, and small insertions. It will not detect a partial or whole gene deletion or duplication. To date, no large deletions or duplications have been reported.
Sample Requirements
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turn-around time: 10-14 business days per tier
CPT Codes and Cost
Additional Information
Hypomyelinating Leukodystrophy with Atrophy of the Basal Ganglia and Cerebellum (H ABC) and Autosomal Dominant Torsion Dystonia 4 (DYT4)
Gene: TUBB4A (also known as TUBB4, TUBB5)
Protein: tubulin, beta 4
Inheritance Pattern: Autosomal dominant or sporadic
Testing is performed by sequencing the entire coding region of the TUBB4A gene. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication. Targeted mutation analysis for the common mutations c.745G>A; p.Asp249Asn in H-ABC or c.4C>G; p.Arg2Gly in DYT4 can be carried out; please note on submission form if this targeted approach is being requested. A negative test result does not rule out a genetic cause of hypomyelinating leukodystrophy, since there are many other genes associated with leukodystrophies, some of which are available for testing in our laboratory.
Draw one or two 4cc tubes of blood in EDTA/purple top tube (minimum of 1-2cc for infants)
Turnaround time: 7-10 business days
Gene: CYP24A1
Protein: 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial
Inheritance pattern: Autosomal recessive; carriers with either subclinical biochemical phenotypes or clinical symptoms have been reported.
Testing is performed by sequencing coding exons 1-11, and a portion of exon 12 in the 3’UTR. This test will detect point mutations, small deletions and small insertions. The gene dosage assay will detect some partial and all whole gene deletions or duplications. Large deletions and duplications in CYP24A1 have not been reported.
Common pathogenic variants have been reported in exons 2, 3, 6, 7, 9. Partial sequencing in regions known to carry mutations can be carried out and may be ordered as Tier 1 testing; please note on submission form if this tiered approach is being requested.
Draw one or two 4cc tubes of blood in EDTA/purple top tube (minimum of 1-2cc for infants).
Turnaround time: 10-14 business days
Gene: AARS1; AARS2; DARS1; DARS2; EARS2; FAM126A; GJC2; HEPACAM; LMNB1; MARS2; MLC1; PLP1; POLR3A; POLR3B; POLR1C; RARS1; SLC16A2; TUBB4A
Pediatric and Adult-onset leukodystrophies are a clinically and genetically diverse group of disorders comprised of white matter neurodegeneration and varying neurological symptoms. Rare monogenic forms can present with symptoms at birth or may present later in life, including adulthood. The diverse genetic etiology and clinical overlap of phenotypes can make a definitive diagnosis a challenge. Patients may present with hypomyelination; nystagmus; hypotonia; spasticity; ataxia; dysarthria; stridor; progressive pyramidal and cerebellar signs; dysmyelination of the brain; cerebellar atrophy. This panel includes both non-syndromic and syndromic causes of progressive movement disorders, and can be associated with gene variants in one of these 18 genes. Copy number changes will not be detected through this assay. Inheritance patterns: autosomal dominant, autosomal recessive, X-linked
Testing is performed by next generation sequencing followed by analysis software alignment to the gene reference transcripts.
A negative test result does not rule out a diagnosis of a leukodystrophy related disorder. Other genes are known to be associated with some of these conditions, and this test will only detect gene variants in the genes listed above.
Turnaround time: 12-16 weeks
Gene: DARS2
Protein: mitochondrial aspartyl-tRNA synthetase 2
Inheritance Pattern: Autosomal recessive
The diagnosis of LBSL is based on characteristic abnormalities observed on brain and spinal cord MRI and the identification of two alleles with mutations in DARS2. Finding two disease-causing mutations in DARS2 confirms the diagnosis of LBSL. However, absence of DARS2 mutations does not exclude the diagnosis when the clinical and MRI findings are characteristic, especially if all major diagnostic criteria and at least one supportive criterion are met.
Testing can be performed in tiers, moving to the next tier only if the preceding test is negative. Full gene sequencing can also be performed. The following strategy is suggested:
Tier 1: Sequencing of exons 3 , 5, and adjacent intronic regions of DARS2, which covers the three most common pathogenic variants: c.228-21_-20delTTinsC (rs367543010), c.455G>T (rs121918208), and c.492+2T>C (rs14243333).
Tier 2: Sequencing of the remaining exons and intronic boundaries of DARS2.
This will detect point mutations, small deletions, and small insertions. It will not detect a partial or whole gene deletion or duplication.
Draw one or two 4cc tubes of blood in EDTA/purple top tube (minimum of 1-2cc for infants)
Turnaround time: 10-14 days per tier
Tier 1: (81479): $300
Tier 2: (81479): $725
Full Gene Sequencing: (81479): $1025
Known Variant Testing: (81479): $225
Gene: LIG4
Protein: DNA ligase 4
Inheritance Pattern: Autosomal recessive
Testing is performed by sequencing both exons of the LIG4 gene as well as partial intronic regions. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication. To date, no large deletions or duplications have been reported.
Draw one or two 4cc tubes of blood in EDTA/purple top tube (minimum of 1-2cc for infants)
Turnaround time: 10-14 business days
MLC1
MLC1
Membrane protein MLC1
MLC2A & MLC2B
HEPACAM
Hepatocyte cell adhesion molecule
The diagnosis of MLC is based on diagnostic criteria, including brain MRI. A negative test result does not rule out a diagnosis of MLC since a mutation may not be identifiable with test methods used, or a mutation may be in another gene. This test will only detect mutations in MLC1 and HEPACAM.
Mutations in MLC1 and HEPACAM are found in 75 percent and 20 percent of affected individuals, respectively. Testing can be performed in tiers, moving to the next tier only if the preceding test is negative. Testing can also be performed concurrently, or in any order requested. The following strategy is suggested:
This will detect point mutations, small deletions, and small insertions. It will not detect a partial or whole gene deletion or duplication. Sequencing will identify the majority of mutations, but partial gene deletions have been reported in MLC1 (Ilja Boor et al, 2006).
Draw one or two 4cc tubes of blood in EDTA/purple top tube (minimum of 1-2cc for infants)
Turnaround time: 10-14 business days per tier
Ear, Patella, Short stature syndrome (EPS) or Absent patellae, micrognathia syndrome
ORC1
Origin recognition complex, subunit 1
ORC4
Origin recognition complex, subunit 4
ORC6
Origin recognition complex, subunit 6
CDT1
Chromatin licensing and DNA replication factor 1
CDC6
Cell division cycle 6
Severe intrauterine and postnatal growth retardation (usually <3rd percentile)
Inheritance Pattern: Autosomal recessive for all genes: ORC1, ORC4, ORC6, CDT1, CDC6
Testing is performed by sequencing all exons of the ORC1, ORC4, ORC6, CDT1 and CDC6 genes as well as partial intronic regions. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication. To date, only nonsense and frameshift mutations with single nucleotide insertions or deletions have been detected. Testing of genes can be completed simultaneously or by a tiered approach.
Draw one or two 4cc tubes of blood in EDTA/purple top tube (minimum of 1-2cc for infants)
Turnaround time: 10-14 business days per gene
Testing in a new patient:
ORC1
81479
$925
ORC4
81479
$775
ORC6
81479
$500
CDT1
81479
$550
CDT6
81479
$725
(Taybi – Linder syndrome)
Gene: RNU4ATAC
Transcript: U4atac small nuclear RNA
Inheritance pattern: Autosomal recessive
Testing is performed by sequencing the entire RNU4ATAC gene and surrounding regions. This will detect point mutations, small deletions and small insertions. It will not detect a whole gene deletion or duplication.
RNU4ATAC is the only gene known to be associated with microcephalic osteodysplastic primordial dwarfism, type I (MOPD I). A negative test does not rule out a diagnosis of MOPD I since a mutation could be in a region not sequenced or in another gene.
Draw one 4cc tube of blood in EDTA/ purple top tube (only 1-2 cc needed for infants)
Turnaround time: 10-14 business days
Gene: PCNT2
Protein: pericentrin
Inheritance pattern: Autosomal recessive
Testing is performed by sequencing all exons and surrounding intronic regions of the PCNT gene. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
PCNT2 is the only gene known to be associated with microcephalic osteodysplastic primordial dwarfism, type II (MOPD2). A negative test does not rule out a diagnosis of MOPD II since a mutation could be in a region not sequenced or in another gene.
Draw one or two 4-cc tubes of blood in EDTA/ purple top tube (minimum of 1-2 cc for infants)
Turnaround time: 4 weeks or less
Noonan syndrome and related disorders
Inheritance pattern: Autosomal dominant
Testing can be performed in tiers, moving to the next tier only if the preceding test is negative. Testing can also be performed concurrently or in any order requested. The following strategy is suggested for Noonan syndrome testing: Tier 1 and 3 is suggested if an individual has findings suggestive of LEOPARD syndrome; Tier 5 is suggested if an individual has loose anagen hair.
Tier 1: Sequencing of the entire coding region of PTPN11
Tier 2: Sequencing of the entire coding region of SOS1
Tier 3: Sequencing of exons 7, 14 and 17 of RAF1
Tier 4: Sequencing of the entire coding region of KRAS
Tier 5: Sequencing of part of exon 2 for reported mutation in SHOC2
Tier 6: Sequencing of exons 6 and 11 through 16 of BRAF
Tier 7: Sequencing of exons 2, 3, 6 and 7 of MAP2K1 (MEK1)
Sequencing tests will detect point mutations, small deletions and small insertions in the regions of the genes that are analyzed. It will not detect a partial or whole gene deletion or duplication.
A negative test does not completely rule out a diagnosis of Noonan syndrome or LEOPARD syndrome, since mutations in these five genes do not account for 100 percent of cases. Clinical overlap is seen between Noonan syndrome, Costello syndrome and cardiofaciocutaneous (CFC) syndrome. Tests for Costello syndrome and CFC syndrome are also available in our lab and can be requested if clinically indicated.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 2-3 cc for infants due to large number of assays).
Turnaround time: 7-10 business days for each gene; about 4 weeks for all 7 tiers
(Price/Code)
(Price/Code)
PTPN11
$1,400 / 81406
$225 / 81479
SOS1
$1,500 / 81406
$225 / 81479
RAF1
$250 / 81404
$225 / 81479
KRAS
$350 / 81405
$225 / 81479
SHOC2
$225 / 81400
$225 / 81479
BRAF
$600 / 81406
$225 / 81479
MAP2K1
$250 / 81479
$225 / 81479
Gene: PLP1
Protein: myelin proteolipid protein
Inheritance pattern: X-linked; carrier females may have mild to moderate symptoms
Testing is performed by quantitative multiplex PCR to determine copy number of PLP1. Fluorescent primers are used to amplify select exons of the PLP1 gene, along with several reference genes. The quantity of each PCR product is determined by measuring the intensity of the fluorescence. Copy number is calculated based on the normalized ratio of the PLP1 gene to each of the reference genes for the patient and controls.
Duplications of variable size and other dosage changes (deletions, triplications, quintuplications) are found in at least 50 percent of males with PLP1-related disorders. This test will detect duplications and other dosage changes that are in tandem as well as duplications that are inserted elsewhere in the genome. Duplication testing alone will not detect point mutations or smaller deletions or insertions.
Testing is performed by sequencing the entire coding region and intron-exon junctions of PLP1. This assay will detect point mutations, small deletions and small insertions. Sequencing alone will not detect a partial or whole gene deletion or duplication.
Point mutations are found in 15 percent or less of males with PLP1-related disorders. A negative result will exclude the presence of a mutation in the regions tested with greater than 99 percent sensitivity. However, a negative result does not exclude the possibility that mutations are present in other regions of the PLP1 gene or in other genes.
If duplication testing and sequencing are both negative, it does not rule out a PLP1-related disorder. Approximately 40 percent of males with clinical findings consistent with the PLP1-related disorders do not have an identifiable mutation in the PLP1 gene, suggesting that mutations may occur in regions of the gene that are not analyzed or in another gene.
A negative test does not rule out a genetic cause of a neurologic disorder. There are many other genes associated with different types of neurologic disorders and leukodystrophies, some of which are available for testing in our laboratory and can be performed if clinically indicated.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turn-around time: 10-14 business days per tier
Also known as hypomyelinating leukodystrophy 2 (HLD2)
Gene: GJC2 (previously known as GJA12)
Protein: gap junction gamma-2 protein (also known as connexin 46.6)
Inheritance Pattern: Autosomal recessive
Testing is performed by sequencing the entire coding region of GJC2. This assay will detect point mutations, small deletions and small insertions. To date (December 2014), no reports of whole gene duplications or deletions have been documented in the literature.
There is a report in the literature that autosomal dominant missense mutations in GJC2 cause lymphedema (Ferrell et al., AJHG 86:943-948, 2010).
A negative test does not rule out a genetic cause of a leukodystrophy. There are many other genes associated with different types of neurologic disorders and leukodystrophies, some of which are available for testing in our laboratory and can be performed if clinically indicated.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turn-around time: 10-14 business days
Gene: SLC26A4
Protein: pendrin
Inheritance pattern: Autosomal recessive
Molecular testing of the SLC26A4 gene should be considered for individuals with hearing loss and enlarged vestibular aqueduct (EVA). Testing is performed by sequencing all exons and the surrounding intronic regions of the SLC26A4 gene. This assay will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
SLC26A4 mutations are identified in 80 percent to 90 percent of familial cases of Pendred syndrome, and in about 30 percent of cases with no family history. Mutations have been identified throughout the SLC26A4 gene and include point mutations, small insertions or deletions, and splice site mutations. Deletions of single and multiple exons have also been reported.
The detection of two pathogenic mutations in SLC26A4 is consistent with a diagnosis of Pendred syndrome or DFNB4. However, single heterozygous mutations have been identified in SLC26A4 in 20 percent to 30 percent of individuals who meet criteria for Pendred syndrome or DFNB4. It is hypothesized that a second unidentified mutation is present in SLC26A4 or in another gene. There is some evidence to suggest that individuals with one identified mutation in SLC26A4 are less likely to develop thyroid manifestations than individuals with two identified mutations.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days
4H syndrome; hypomyelinating leukodystrophy with or without hypodontia and/or hypogonadotropic hypogonadism: HLD7 and HLD8
POLR3A
DNA-directed RNA polymerase III subunit RPC1
POLR3B
DNA-directed RNA polymerase III subunit RPC2
Inheritance Pattern: Autosomal recessive for both POLR3A and POLR3B
Testing is performed by sequencing the entire coding region of POLR3A and POLR3B. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication. A negative test result does not rule out a genetic cause of hypomyelinating leukodystrophy, since there are many other genes associated with leukodystrophies, some of which are available for testing in our lab.
Sequencing of POLR3A with reflex to sequencing of POLR3B is recommended, however, testing can be done concurrently or in any order specified.
Draw one or two 4cc tubes of blood in EDTA/purple top tube (minimum of 1-2cc for infants)
Turnaround time: 10-14 business days per gene
Gene: SLC22A12 (URAT1)
Protein: Solute carrier family 22, member 12
Gene: SLC2A9 (GLUT9)
Protein: Solute carrier family 2, facilitated glucose transporter member 9
Inheritance pattern: Autosomal recessive
Testing is performed by sequencing all exons and the surrounding intronic regions of the SLC22A12 and SLC2A9 genes. This will detect point mutations, small deletions, and small insertions. It will not detect a partial or whole gene deletion or duplication. To date, a deletion of exon 7 as well as a large duplication of exons 1a – 11, have been reported in the SLC2A9 gene. A copy number assay for these regions of SLC2A9 can also be performed.
Draw one or two 4cc tubes of blood in EDTA/ purple top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days
Gene: MECP2
Protein: Methyl-CpG-binding protein 2
Inheritance pattern: X-linked
Tier 1 testing is performed by sequencing the entire coding region of MECP2. This will detect point mutations, small deletions and small insertions. Reflexive testing for a partial or whole gene deletion by fragment analysis can be carried out; please note on submission form if this tiered approach is being requested.
A negative test result does not rule out a diagnosis of Rett syndrome. Sequencing alone will detect mutations in about 80 percent of individuals with classic Rett syndrome and in about 40 percent of individuals with atypical Rett syndrome. Deletion/duplication testing increases the detection rates to about 88 percent and 43 percent, respectively.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days per tier
Smith-McCort Dysplasia
Gene: RAB33B
Protein: Ras-related protein Rab-33B
Inheritance Pattern: Autosomal recessive
Testing is performed by sequencing all exons and surrounding intronic regions of the RAB33B gene. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
A negative test does not rule out a diagnosis of Smith-McCort dysplasia (SMC). A mutation could be present in a region not sequenced or in another gene. Mutations in the DYM gene have also been associated with SMC.
Dyggve-Melchior-Clausen syndrome (DMC) is a disorder that is similar to SMC, but also includes intellectual disability and microcephaly. Mutations in the DYM gene have been associated with both phenotypes, SMC and DMC. Mutations identified to date in RAB33B have been identified in individuals with phenotypes consistent with SMC. At this time, it is not clear if some cases of DMC are due to RAB33B mutations.
Draw one or two 4cc tubes of blood in EDTA/ purple top tube (minimum of 1-2 cc for infants)
Turnaround time: 10-14 business days
Gene: PLP1
Protein: myelin proteolipid protein
Inheritance pattern: X-linked; carrier females may have mild to moderate symptoms
Duplication test:
Testing is performed by quantitative multiplex PCR to determine copy number of PLP1. Fluorescent primers are used to amplify select exons of the PLP1 gene, along with several reference genes. The quantity of each PCR product is determined by measuring the intensity of the fluorescence. Copy number is calculated based on the normalized ratio of the PLP1 gene to each of the reference genes for the patient and controls.
Duplications of variable size and other dosage changes (deletions, triplications, quintuplications) are found in at least 50 percent of males with PLP1-related disorders. This test will detect duplications and other dosage changes that are in tandem as well as duplications that are inserted elsewhere in the genome. Duplication testing alone will not detect point mutations or smaller deletions or insertions.
Sequencing:
Testing is performed by sequencing the entire coding region and intron-exon junctions of PLP1. This assay will detect point mutations, small deletions and small insertions. Sequencing alone will not detect a partial or whole gene deletion or duplication.
Point mutations are found in 15 percent or less of males with PLP1-related disorders. A negative result will exclude the presence of a mutation in the regions tested with greater than 99 percent sensitivity. However, a negative result does not exclude the possibility that mutations are present in other regions of the PLP1 gene or in other genes.
Sensitivity:
If duplication testing and sequencing are both negative, it does not rule out a PLP1-related disorder. Approximately 40 percent of males with clinical findings consistent with the PLP1-related disorders do not have an identifiable mutation in the PLP1 gene, suggesting that mutations may occur in regions of the gene that are not analyzed or in another gene.
A negative test does not rule out a genetic cause of a neurologic disorder. There are many other genes associated with different types of neurologic disorders and leukodystrophies, some of which are available for testing in our laboratory and can be performed if clinically indicated.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turn-around time: 10-14 business days per tier
Gene: SMN1
Protein: survival motor neuron protein
Inheritance pattern: Autosomal recessive
In approximately 95 percent of cases, SMA is caused by homozygous deletion of SMN1. Deletion testing is performed to detect the presence or absence of SMN1. This test does not detect heterozygous carriers of an SMN1 deletion.
Confirm or rule out a suspected diagnosis of SMA
About 5 percent of the time, SMA is caused by a deletion of SMN1 on one allele in combination with an intragenic mutation on the other allele. Gene sequencing can be performed for individuals who test negative by deletion testing. The entire coding regions of SMN1 and SMN2 are sequenced. Large duplications and deletions within the gene may not be detected.
SMN1 is the only gene known to be associated with this form of SMA. These assays will detect mutations in greater than 99 percent of individuals with this form of SMA. There are other disorders that include muscular atrophy and loss of lower motor neurons. A negative SMN1 test does not rule out a genetic cause of muscle weakness, and additional testing may be indicated.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turnaround time:
(Distal Spinal Muscular Atrophy: DSMA1, Distal Hereditary Motor Neuronopathy type VI: dHMN6 or HMN6)
Gene: IGHMBP2
Protein: Immunoglobulin Mu-Binding Protein 2
Inheritance pattern: Autosomal recessive
Testing is performed by sequencing all exons and partial intronic regions of IGHMBP2. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
Draw one or two 4-cc tubes of blood in EDTA/purple-top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days
Spondyloocular syndrome (SOS)
Gene: XYLT2
Protein: xylosyltransferase II
Clinical characteristics
Inheritance pattern: Autosomal recessive
What this test can tell us
Testing is performed by sequencing all exons and the surrounding intronic regions of the XYLT2 gene. This will detect point mutations, small deletions, and small insertions. It will not detect a partial or whole gene deletion or duplication. To date, no large deletions or duplications have been reported.
Sample requirements: Draw one or two 4cc tubes of blood in EDTA/ purple top tube (minimum of 1-2 cc for infants)
Turn-around time: 10-14 business days
CPT codes and cost:
Full Gene Sequencing: 81479 $700
Known Variant Testing: 81479 $225
Links :
Gene: RBM10
Protein: RNA-binding protein 10
Inheritance pattern: X-linked
Testing is performed by sequencing the entire RBM10 gene and surrounding regions. This will detect point mutations, small deletions and small insertions. It will not detect a whole gene deletion or duplication.
RBM10 is the only gene known to be associated with TARP syndrome. A negative test does not rule out a diagnosis of TARP syndrome since a mutation could be in a region not sequenced or in another gene.
Draw one or two 4cc tubes of blood in EDTA/purple top tube (minimum of 1-2 cc for infants)
Turnaround time: 10-14 business days
Gene: CACNA1C
Protein: Voltage-dependent L-type calcium channel subunit alpha-1C
Inheritance pattern:
Testing is performed by sequencing exons 8 and 8A (alternatively transcribed coding exons) and the surrounding intronic regions of the CACNA1C gene. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
A negative test result does not rule out a genetic cause of long QT syndrome (LQTS). Other genes are known to be associated with LQTS and this test will only detect mutations associated with Timothy syndrome. This test will not detect mutations in other regions of the gene, such as those associated with Brugada syndrome.
Draw one or two 4cc tubes of blood in EDTA/ purple top tube (minimum of 1-2 cc for infants).
Turnaround time: 10-14 business days
Gene: TRPV4
Protein: Transient receptor potential cation channel, subfamily V, member 4
(also known as neurogenic scapuloperoneal amyotrophy)
(also known as Charcot-Marie-Tooth disease type 2C)
Inheritance pattern: Autosomal dominant
Mutations in exons 3, 5 and 6 of TRPV4 have been associated with the three neuromuscular disorders listed above, which show overlap in their clinical symptoms. Testing can be performed by sequencing exons 3, 5 and 6, or by sequencing the entire coding region. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
TRPV4 is the only gene known to be associated with these specific disorders. A negative test does not rule out a genetic cause of neuromuscular problems, as there are many other genes associated with different types of neuromuscular disorders.
Certain mutations in exons 6 and 11 through 16 of TRPV4 have been associated with three specific types of autosomal dominant skeletal dysplasias. One of these mutations may be identified during this test. This will be reported to the ordering provider.
Draw one or two 4cc tubes of blood in EDTA/purple top tube (minimum of 1-2 cc for infants)
Turnaround time: 10-14 business days
Gene: TRPV4
Protein: transient receptor potential cation channel, subfamily V, member 4
Inheritance pattern: Autosomal dominant
Testing is performed by sequencing the entire coding region of TRPV4. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication. Partial sequencing in regions known to carry mutations can be carried out; please note on submission form if this tiered approach is being requested.
TRPV4 is the only gene known to be associated with these specific disorders. There are other types of spondylometaphyseal dysplasia and brachyolmia that are not associated with mutations in TRPV4. A negative test does not rule out a genetic cause of a skeletal dysplasia, as there are many other genes associated with different types of skeletal dysplasias.
Certain mutations in TRPV4 have been associated with 3 specific types of autosomal dominant neuromuscular disorders. One of these mutations may be identified during this test. This will be reported to the ordering provider.
Draw one or two 4cc tubes of blood in EDTA/ purple top tube (minimum of 1-2 cc for infants)
Turnaround time: 10-14 business days
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