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Arthrogryposis (WES based NGS panel of 240 genes, including CNV analysis)
MYMK, SELENON, ACTA1, ADAMTS10, ADGRG6, ANTXR2, ASXL1, B3GALNT2, B4GAT1, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNTNAP1, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, CRLF1, DAG1, DNM2, DOK7, ECEL1, ERCC6, ERCC8, EXOSC3, FAM20C, FBN2, FGFR2, FGFR3, F
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Methodology

NGS


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

Specialties

- Rare diseases, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 4845




Associated Tests


Arthrogryposis (NGS panel for 49 genes)
Congenital muscular dystrophies (WES based NGS panel of 46 genes, including CNV analysis)
Myopathies, including congenital myopathies (WES based NGS panel of 180 genes, including CNV analysis)
Myasthenic syndrome, congenital (NGS panel for 17 genes)
Congenital Myasthenia (WES based NGS panel of 28 genes, including CNV analysis)