Inheritance pattern: Autosomal recessive
What this test can tell us:
Testing is performed by sequencing the entire coding region of GJC2. This assay will detect point mutations, small deletions, and small insertions. Fragment analysis will also be performed to detect a whole or partial gene deletion.
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 neurologic disorder. There are many other genes associated with different types of neurologic disorders and leukodystrophies. Pelizaeus-Merzbacher Disease (PMD) is an X-linked disorder caused by mutations in the PLP1 gene. Testing for PMD is available in our laboratory and can be performed if clinically indicated. Mutations of the FAM126A gene cause an autosomal recessive syndrome known as hypomyelination and congenital cataract (HCC) or hypomyelinating leukodystrophy-5 (HLD5). Testing for HCC is also available in our laboratory and can be performed if clinically indicated.
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: 4-6 weeks
CPT codes and cost:
Proband: 83891 x 1 83900 x 1 83904 x 10 83912 x 1 $673
Family Member: 83891 x 1 83898 x 2 83904 x 2 83912 x 1 $318
Pelizaeus-Merzbacher-Like Disease Testing Packet
