Number of Panel Genes: 
11

Myofibrillar myopathy (MFM) is a genetically heterogeneous group of diseases with similar histological findings including an abnormal accumulation of intrasarcoplasmic proteins and progressive myofibrillar degeneration beginning at the Z-disk. The typical age of onset is in mid-adulthood, but it can vary from infancy to late adulthood. Most patients have both proximal and distal muscle weakness.read more

Tests Available

11 Panel Genes: ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1
Next Generation Sequencing
$1,370
Test Code: 5218
Deletion / Duplication
$1,150
Test Code: 5219
LDB3 Del / Dup for exons 1-9 ONLY
NGS/Del Dup Comprehensive
$2,370
Test Code: 5220
LDB3 Del / Dup for exons 1-9 ONLY

Test Details

Technical Information
Panel Genes: 
ACTA1, BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PYROXD1
Disease Groups: 
Neurological and Muscular Disorders
Billing
Price: 
$1,370
CPT Codes: 
81404 x 1
81405 x 2
81406 x 1
81479 x 7
Ordering
SKU:
5218
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: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 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: 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.

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