Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency
Full gene sequencing of the ACADM gene.
PrintFull gene sequencing of the ACADM gene.
MCAD dificiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food. Signs and symptoms can include vomiting, lack of energy (lethargy), and low blood sugar and people are at risk for serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death.
This AmbrySCREEN Version 2™ test is also available individually for full gene sequence analysis.
Specific mutation analysis of the ACADM gene include p.K304E. This test is also available individually for full gene sequence analysis.
Blood Samples:
Container: Purple top EDTA tube (preferred) or yellow top citric acetate tube.
Amount: Adult 3-5 cc, pediatric 2 cc minimum.
Storage: 2-8°C. Do not freeze.
Shipment: Room temperature for two-day delivery.
DNA:
Container: Sterile plastic tube.
Amount: 5 μg of DNA in TE (10mM Tris-Cl pH 8.0, 1mM EDTA); preferred 200 μl at ~100 ng/μl conc.
Storage: -20°C.
Shipment: Shipment frozen on dry ice is preferred, or ship on ice.
Saliva:
Container: Oasis DNA Self Collection container.
Amount: 2 ml.
Storage: At room temperature in sterile bag.
Shipment: Ship room temperature for two-day delivery.
| Technique | Days |
|---|---|
| ACADM Gene Sequence Analysis | 20-42 |