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Arthrogryposis (NGS panel for 49 genes)
ACTA1, ADCY6, ADGRG6, ALG3, ASCC1, C12orf65, CDK5, CHAT, CHRNG, CHST14, CNTNAP1, DHCR24, DOK7, ECEL1, ERBB3, ERCC1, ERCC5, ERCC6, FBN1, FBN2, FKBP10, GBA, GBE1, GLE1, IBA57, KIF14, KIF5C, KLHL41, MUSK, MYBPC1, MYH3, MYH8, NEB, NEK9, PI4KA, PIEZO2, RAPSN,
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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

- 3591




Associated Tests


Arthrogryposis (WES based NGS panel of 240 genes, including CNV analysis)
Congenital Myasthenia (WES based NGS panel of 28 genes, including CNV analysis)
Myasthenic syndrome, congenital (NGS panel for 17 genes)
Multiple pterygium syndrome (NGS panel of 14 genes)
Fetal hydrops (WES based NGS panel of 66 genes, including CNV analysis)