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Charcot-Marie-Tooth disease type 2S (CMT2S, sequence analysis of IGHMBP2 gene)
IGHMBP2
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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

- 4068




Associated Tests


Neuronopathy, distal hereditary motor (deletion/duplication analysis on IGHMBP2 gene)
Spinal muscular atrophy with respiratory distress (sequence analysis of IGHMBP2 gene)
Charcot-Marie-Tooth disease (NGS panel of 43 genes)
Spinal muscular atrophy (WES based NGS panel of 29 genes, including CNV analysis)