|Giant Axonal Neuropathy (GAN) Gene Sequencing||
Analysis of the entire coding region: Sequence analysis
Polymerase chain reaction (PCR)
|Container Type||Container Size||Specimen Volume|
Purple tube (EDTA)
|4 mL||4 mL-8 mL|
Room temperature - 24 hour(s)
- Do not freeze
- Do not centrifuge
Reasons for Rejection
- Centrifuged specimen
- Frozen specimen
- Wrong collection tube
- Clotted specimen
Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended but not required.
This test is a full gene sequencing analysis of the GAN gene. Pathogenic variants (mutations) in this gene cause giant axonal neuropathy, which is a severe childhood-onset neurodegenerative disorder affecting both the central and peripheral nervous systems. Giant axonal neuropathy is characterized by severe peripheral motor and sensory neuropathy, central nervous system abnormalities including intellectual disabilities, seizures, cerebellar signs (ataxia, nystagmus, dysarthria) and pyramidal tract signs (spasticity, decreased superficial reflexes, inability to perform fine movements), and characteristic kinky hair. The diagnosis of giant axonal neuropathy is established by clinical findings including nerve conduction velocity, brain MRI, and peripheral nerve biopsy. Affected individuals have been reported to have homozygous or compound heterozygous mutations in the GAN gene and mutations are typically identified in 70-90% of affected individuals.
Targeted mutation analysis for this gene is available for family members when familial mutation is known (see Test Code: FMLIS).