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Kearns-Sayre syndrome (KSS, 4977bp deletion in mtDNA)
mtDNA
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Methodology
Deletion/duplication analysis by MLPA
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 |
| Fetal DNA | ≥ 20 µL [25 ng/µL] | Eppendorf Safe-lock | Room temp. | n/a |
| Peripheral blood | ≥ 3 mL | EDTA | Room temp. | 5 |
| Amniotic fluid | ≥ 5 mL | Sterile tube | Room temp. | 4 |
| Chorionic villus sampling (CVS) | ≥ 30 mg | Sterile tube + transport medium | Room temp. | 4 |
| Cell culture | 2 x T25 confluent | Sterile tube + transport medium | Room temp. | 2 |
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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)
- 30
Specialties
- Cardiology, Dermatology, Rare diseases, Neurology / Neuropediatrics, Ophthalmology, Pediatrics
CGC Reference
- 302
Associated Tests
Progressive external ophthalmoplegia (CPEO, 4977bp deletion in mtDNA)
Leber's Hereditary Optic Neuropathy (LHON, 3 frequent mutations)
Complete mitochondrial DNA sequencing
Deletion/duplication analysis on mitochondrial DNA
Mitochondrial cytopathies (mutations del4977bp, G3460A, G11778A, T8993C, T8993G, A3271G, A3243G, T8356C, A8344G)