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Arthrogryposis, distal type 2B (sequence analysis of MYH3 gene)
MYH3
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Methodology

Sanger sequencing


Specimen Requirements


Descriptive Volume /
Concentration 1
Container Transport
temperature
Sample
viability (days) 2
DNA ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
1 When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2 Maximum shipping time to ensure sample quality

Turnaround Time (Days)

- 60

CPT Codes

- 81479

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 746




Associated Tests


Freeman-Sheldon syndrome (sequence analysis of MYH3 gene)
Arthrogryposis (NGS panel for 49 genes)
Multiple pterygium syndrome (NGS panel of 14 genes)