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Congenital Myasthenia (WES based NGS panel of 28 genes, including CNV analysis)
AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LRP4, MUSK, PLEC, RAPSN, SCN4A, SLC18A3, SLC5A7, ALG2, MYO9A, VAMP1, ALG14, LAMB2, PREPL, SNAP25, SYT2,
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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


CGC Reference

- 4860




Associated Tests


Myasthenic syndrome, congenital (NGS panel for 17 genes)
Myasthenic syndrome fast channel congenital (NGS panel for 8 genes)
Arthrogryposis (WES based NGS panel of 240 genes, including CNV analysis)
Multiple pterygium syndrome (NGS panel of 14 genes)
Arthrogryposis (NGS panel for 49 genes)