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Alstrom syndrome (deletion/duplication analysis of ALMS1 gene)
ALMS1
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Methodology

Real-time quantitative PCR (RT-qPCR)


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

- Cardiology, Rare diseases, Endocrinology, Nephrology, Neurology / Neuropediatrics, Ophthalmology


CGC Reference

- 4233




Associated Tests


Alstrom syndrome (sequence analysis of exons 8, 10 and 16 of ALMS1 gene)
Alstrom syndrome (sequence analysis of ALMS1 gene)
Idiopathic renal failure on young (WES based NGS panel of 171 genes, including CNV analysis)
Retinitis pigmentosa (WES based NGS panel of 190 gene, including CNV analysis)
Diseases of the posterior ocular segment (WES based NGS panel for 307 gene, including CNV analysis)