| EX1621 Nx GEN SEQUENCING: EPISODIC ATAXIA |
| Specimen: |
Submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 6 hrs |
72 hrs |
NA |
|
| Method: |
NGS, Sanger sequencing |
| Comment: |
|
| Report: |
Contact us to know the TAT. |
| Usage: |
Episodic ataxia (EA) Types 1 & 2 are autosomal dominant disorders comprising gait impairment which may be associated with nystagmus, hand incoordination, and tremors. In addition, manifestations may be purely cerebellar or mixed cerebellar-brainstem / cerebellar-basal ganglia or spinal cord & peripheral nerve disorders. Episodic ataxia has been mapped to the KCNA1 gene – chromosome 12p for EA Type 1 and chromosome 19p for EA Type 2. EA Type 1 has short episodes of ataxia with myokymia & nystagmus whereas EA Type 2 has long episodes which can last for hours or days. Up to 8 types of EA have been described. EA type 5 is caused by a mutation in the CACNB4 gene on chromosome 2q22-q23. EA type 6 is caused by a mutation in the SLC1A3 gene which codes for a protein that transports glutamate a neurotransmitter present on chromosome 5p13. Genetic causes of other types of episodic ataxia are not very clear and are under research. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Genetic Disorders-Ataxia |
| Components: |
CACNA1A, CACNB4, GABRD, GABRG2, KCNA1, SCN1A, SCN1B, SCN2A, SCN9A, SLC1A3 |
| Courier Charges: |
|
| Home Collection: |
Available (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Whole Exome Sequencing Consent Form is mandatory. |
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