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QHerit™ 6 Diseases, Female
Test Code14011
CPT Codes
81161, 81329, 81257, 81363, 81364, 81222, 81223, 81243
Preferred Specimen
10 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
2 mL
Other Acceptable Specimens
2 mL saliva collected in QHerit At Home Saliva Collection Kit
Instructions
For Quest Referrals Shipping: Ship at room temperature in an insulated container by overnight delivery Monday through Friday. Samples should NOT be shipped on Saturday or the day before or after a holiday to ensure viability. During warmer months, we recommend shipping with cool packs.
When selecting saliva, the QHerit At Home Collection Kit (Test Code 15479) must be ordered with the QHerit test panel.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Note: Patient's gender is required.
When selecting saliva, the QHerit At Home Collection Kit (Test Code 15479) must be ordered with the QHerit test panel.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Note: Patient's gender is required.
Transport Temperature
Room temperature
Specimen Stability
Whole blood
Room temperature: 7 days
Refrigerated: 14 days
Frozen: Unacceptable
Saliva
Room temperature: 14 days
Refrigerated: 14 days
Frozen: 14 days
Room temperature: 7 days
Refrigerated: 14 days
Frozen: Unacceptable
Saliva
Room temperature: 14 days
Refrigerated: 14 days
Frozen: 14 days
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Sample exposed to heat
Methodology
Next Generation Sequencing • Sanger Sequencing • Polymerase Chain Reaction w/reflex to Southern Blot
Setup Schedule
Set up: Mon-Sat; Report available: 16 days
Reference Range
See Laboratory Report
Clinical Significance
This test offers molecular detection by next-generation sequencing (NGS) of variants for specified X-linked and autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. The male panel that corresponds to this female panel is QHerit™ 4 Diseases, Male (Test Code 14010). Carrier screening aims to identify couples who have an increased risk of having an affected child 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 the case with a Quest Genetic Counselor.
This test analyzes genetic variants associated with 6 conditions. Conditions included in this panel: Alpha-thalassemia (HBA1/HBA2); Beta hemoglobinopathies including sickle cell anemia (HBB); Cystic fibrosis (CFTR); Duchenne/Becker muscular dystrophy (DMD); Fragile X syndrome (FMR1); and Spinal muscular atrophy (SMN1).
This test analyzes genetic variants associated with 6 conditions. Conditions included in this panel: Alpha-thalassemia (HBA1/HBA2); Beta hemoglobinopathies including sickle cell anemia (HBB); Cystic fibrosis (CFTR); Duchenne/Becker muscular dystrophy (DMD); Fragile X syndrome (FMR1); and Spinal muscular atrophy (SMN1).
