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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Tests Available

4 Panel Genes: COL6A1, COL6A2, COL6A3, COL12A1
Next Generation Sequencing
$1,330
Test Code: 1059
Deletion / Duplication
$850
Test Code: 1486
NGS/Del Dup Comprehensive
$2,080
Test Code: 1487

Test Details

Technical Information
Panel Genes: 
COL6A1, COL6A2, COL6A3, COL12A1
Disease Groups: 
Neurological and Muscular Disorders
Billing
Price: 
$1,330
CPT Codes: 
81407 x 3
81479 x 1
Ordering
SKU:
1059
Turnaround Time: 
Typically 3 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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