| EX1873 SPINO-BULBAR MUSCULAR ATROPHY |
| Specimen: |
4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 6 hrs |
1 week |
NA |
|
| Method: |
PCR, Fragment Analysis |
| Comment: |
Samples received on holidays will be reported in the next schedule/next working day. |
| Report: |
Contact us to know the TAT. |
| Usage: |
Spinal-bulbar muscular atrophy (SBMA) is a progressive neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brainstem and spinal cord. Age of onset and severity of manifestations in affected males vary from adolescence to old age, but most commonly develop in mid-adult life. The syndrome has neuromuscular and endocrine manifestations. Genetically it is caused by a trinucleotide CAG repeat expansion in exon 1 of the gene encoding the androgen receptor AR. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Neurologic Disorder |
| Components: |
*AR (Androgen Receptor) Gene mutation |
| 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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