| EX0603 EPISODIC ATAXIA TYPE 1, HOTSPOT |
| Specimen: |
4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
|
| Stability: |
| Room |
Refrigerated |
Frozen |
| 6 hrs |
1 week |
NA |
|
| Method: |
PCR, Sequencing |
| Comment: |
Samples received on holidays will be reported in the next schedule/next working day. |
| Report: |
Contact us to know the TAT. |
| Usage: |
Episodic ataxia (EA) is an autosomal dominant neurologic condition affecting less than 1 in 100,000 people. It is characterized by spells of incoordination and imbalance (ataxia) with or without myokymia. It is a genetically heterogeneous disorder caused by a mutation in different genes. Type 1 Episodic ataxia (EA1) is characterized by attacks of generalized ataxia induced by emotion or stress, with myokymia both during and between attacks. This disorder is also known as Episodic ataxia with myokymia (EAM), Hereditary paroxysmal ataxia with neuromyotonia, and Isaacs-Mertens syndrome. The onset of EA1 occurs during early childhood to adolescence and persists throughout life. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Disorders of the Nervous system |
| Components: |
*KCNA1 Gene |
| Courier Charges: |
|
| Home Collection: |
Available (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Genomics Clinical information Requisition Form is mandatory. |
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