Number of Panel Genes:
4
Bethlem myopathy 1 (BTHLM1; MIM 158810) and Ullrich congenital muscular dystrophy 1 (UCMD2; MIM 254090) are two related disorders caused by mutations in the COL6A1, COL6A2 or COL6A3 gene. Bethlem myopathy 2 (BTHLM2; MIM 616471) and Ullrich congenital muscular dystrophy 2 (UCMD2; MIM 616470) are caused by mutations in the COL12A1 gene.
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4 Panel Genes: COL6A1, COL6A2, COL6A3, COL12A1
Next Generation Sequencing
$1,100
Test Code: 1059
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Deletion / Duplication
$990
Test Code: 1486
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NGS/Del Dup Comprehensive
$1,300
Test Code: 1487
|
Test Details
Technical Information
Panel Genes:
COL6A1, COL6A2, COL6A3, COL12A1
Disease Groups:
Neurological and Muscular Disorders
Billing
CPT Codes:
81407 x 1
81479 x 1
Ordering
SKU:
1059 Turnaround Time:
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.