Bethlem myopathy (MIM158810) and Ullrich congenital muscular dystrophy (MIM 254090) are two related disorders caused by mutations in the COL6A1, COL6A2 or COL6A3 gene. Bethlem myopathy and Ullrich congenital muscular dystrophy are currently thought to represent a phenotypic continuum rather than distinct disorders.

read more

Tests Available

By gene: COL6A1, COL6A2, COL6A3
Next Generation Sequencing
$1,270
Test Code: 1059
COL6A1, COL6A2 and COL6A3
Deletion / Duplication
$800
Test Code: 1486
NGS/Del Dup Comprehensive
$1,970
Test Code: 1487

Test Details

Technical Information
Genes: 
COL6A1, COL6A2, COL6A3
Test Note: 
COL6A1, COL6A2 and COL6A3
Disease Groups: 
Neurological and Muscular Disorders
MIM: 
158810
Billing
Price: 
$1,270
CPT Codes: 
81407 x 3
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.

Search Tests

TIP: enter a partial disorder name or gene to widen your search