Number of Panel Genes:
20
The Distal myopathy NGS panel consists of 20 genes: ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN and VCP. Mutations in these genes cause genetically and clinically heterogeneous group of disorders characterized by muscular dystrophy with predilection for distal muscles.
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20 Panel Genes: ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP
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Next Generation Sequencing
$1,300
Test Code: 5238
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Deletion / Duplication
$990
Test Code: 5239
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NGS/Del Dup Comprehensive
$1,500
Test Code: 5240
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Test Details
Technical Information
Panel Genes:
ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP
Disease Groups:
Neurological and Muscular Disorders
Billing
CPT Codes:
81404 x 1
81405 x 1
81406 x 1
81407 x 1
81408 x 1
81479 x 1
Ordering
SKU:
5238 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.