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QHerit™ Expanded Carrier Screen
Test Code12815
CPT Codes
<br>** RESTRICTED USE ** This test is available for Client 6374 and Kaiser All only
Includes
Reflex occurs when the initial PCR results indicate the presence of either a premutation or a full mutation.
Preferred Specimen
1.5 mL whole blood collected in each of four EDTA (lavender-top) or ACD (yellow-top) tubes
Minimum Volume
1 mL in each of four tubes
Other Acceptable Specimens
Whole blood collected in: Sodium heparin (green-top) tube
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 14 days
Refrigerated: 8 days
Frozen: Unacceptable
Refrigerated: 8 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Clotted • Shipped in damaged containers
Methodology
Polymerase Chain Reaction with Detection by Capillary Electrophoresis and Methylation Analysis • Multiplex Polymerase Chain Reaction • Massively Parallel Sequencing • Allele Specific Real-Time Polymerase Chain Reaction • ddCT Method
Setup Schedule
Set up: Mon, Sat; Report available: 10-16 days
Clinical Significance
The expanded carrier screen offers hotspot molecular detection of variants for one X-linked and multiple autosomal recessive disorders at the same time and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. As this is a screening test, this carrier panel is not intended to be used for diagnostic purposes. If diagnostic genetic testing is desired, please call Genomic Client Services (GENEINFO) at 866.436.3463 to discuss case with a Quest Genetic Counselor.
The expanded carrier screening panel (QHerit), analyzes 24 genes associated with 22 diseases, including: Alpha Thalassemia, Beta-Hemoglobinopathies (Including Sickle Cell Disease), Bloom Syndrome, Canavan Disease, Cystic Fibrosis (CFvantage), Dihydrolipoamide Dehydrogenase Deficiency, Familial Dysautonomia, Familial Hyperinsulinism, Fanconi Anemia Type C, Fragile X Syndrome, Gaucher Disease, Glycogen Storage Disease Type IA, Joubert Syndrome 2, Maple Syrup Urine Disease, Mucolipidosis Type IV, Nemaline Myopathy, Niemann-Pick Disease Type A, Spinal Muscular Atrophy, Tay-Sachs Disease, Usher Syndrome Type IF, Usher Syndrome Type IIIA, and Walker-Warburg Syndrome.
The expanded carrier screening panel (QHerit), analyzes 24 genes associated with 22 diseases, including: Alpha Thalassemia, Beta-Hemoglobinopathies (Including Sickle Cell Disease), Bloom Syndrome, Canavan Disease, Cystic Fibrosis (CFvantage), Dihydrolipoamide Dehydrogenase Deficiency, Familial Dysautonomia, Familial Hyperinsulinism, Fanconi Anemia Type C, Fragile X Syndrome, Gaucher Disease, Glycogen Storage Disease Type IA, Joubert Syndrome 2, Maple Syrup Urine Disease, Mucolipidosis Type IV, Nemaline Myopathy, Niemann-Pick Disease Type A, Spinal Muscular Atrophy, Tay-Sachs Disease, Usher Syndrome Type IF, Usher Syndrome Type IIIA, and Walker-Warburg Syndrome.
