DRPLA (ATN1) Genetic Testing (Repeat Expansion)
Use
Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive disorder of ataxia, myoclonus, epilepsy and progressive intellectual deterioration in children and ataxia, choreoathetosis, and dementia or character changes in adults. The diagnosis of DRPLA is established in a proband with suggestive clinical findings and a family history of DRPLA or by the indentification of a heterozygous pathogenic CAG trinucleotide expansion in ATN1.
Special Instructions
Not provided.
Limitations
False positive or false negative results may occur due to factors such as insufficient knowledge about rare genetic variants, allele dropout, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, or mislabeled samples. Maximum reportable size for ATN1 repeat expansion testing is 110 repeats. Inability to assess repeats greater than the maximum reportable size.
Methodology
PCR-based
Biomarkers
No genes
Gene
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
| Frozen | do not freeze |
Other tests from different labs that may be relevant