| EX1558 MYOTONIC DYSTROPHY TYPE 1 |
| 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, 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: |
Myotonic dystrophy is an autosomal dominant disorder characterized mainly by muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. Myotonic dystrophy type 1 (DM1), has a severe congenital form and a milder childhood-onset form as well as an adult-onset form. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of the DMPK gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1000 repeats, and those with congenital onset can have more than 2000 repeats. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Neurologic Disorder |
| Components: |
*DMPK 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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