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QHerit™ 26 Diseases, Male
Test Code18293
CPT Codes
81443
Physician Attestation of Informed Consent
This genetic test requires provider confirmation that patient informed consent has been received if the ordering provider is located in AK, AZ, DE, FL, GA, IA, MA, MN, MT, NV, NH, NJ, NY, OR, SC, SD, or VT or testing is performed in MA.
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 • Received Frozen
Methodology
Next Generation Sequencing • Sanger Sequencing
FDA Status
These results should be used in the context of available clinical findings, and should not be used as the sole basis for treatment. This test was developed and its performance characteristics determined by Baylor Genetics, 2450 Holcombe Blvd., Houston, TX 77021. Laboratory director: Christine M. Eng, MD. US Food and Drug Administration (FDA) does not require this test to go through premarket FDA review. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high complexity clinical laboratory testing.
Setup Schedule
Set up: Mon-Sat; Report available: 14 days
Clinical Significance
This test offers molecular detection by next-generation sequencing (NGS) of variants for specified autosomal recessive disorders and allows testing of individuals regardless of ancestry or geographic origin. The female panel that corresponds to this male panel is QHerit™ 28 Diseases, Female (Test Code 18294). 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 case with a Quest Genetic Counselor.
This test analyzes genetic variants associated with 26 conditions. Conditions included in this panel: Alpha-thalassemia (HBA1/HBA2), Autosomal recessive polycystic kidney disease (PKHD1), Beta hemoglobinopathies, including sickle cell disease (HBB), Bloom syndrome (BLM), Canavan disease (ASPA), Cystic fibrosis (CFTR), Dihydrolipoamide dehydrogenase deficiency (DLD), Familial dysautonomia (ELP1), Familial hyperinsulinism, ABCC8-related (ABCC8), Fanconi anemia, complementation group C (FANCA), Fukuyama congenital muscular dystrophy (FKTN), Galactosemia (GALT), Gaucher disease (GBA), Glycogen storage disease, type Ia (G6PC1), Joubert syndrome 2 (TMEM216), Maple syrup urine disease, type 1B (BCKDHB), Medium-chain acyl-CoA dehydrogenase deficiency (ACADM), Mucolipidosis IV (MCOLN1), Nemaline myopathy 2 (NEB), Niemann-Pick disease, types A/B (SMPD1), Phenylalanine hydroxylase deficiency (PAH), Smith-Lemli-Opitz syndrome (DHCR7), Spinal muscular atrophy (SMN1), Tay-Sachs disease (HEXA), Usher syndrome, type 1F (PCDH15), Usher syndrome, type 3A (CLRN1).
This test analyzes genetic variants associated with 26 conditions. Conditions included in this panel: Alpha-thalassemia (HBA1/HBA2), Autosomal recessive polycystic kidney disease (PKHD1), Beta hemoglobinopathies, including sickle cell disease (HBB), Bloom syndrome (BLM), Canavan disease (ASPA), Cystic fibrosis (CFTR), Dihydrolipoamide dehydrogenase deficiency (DLD), Familial dysautonomia (ELP1), Familial hyperinsulinism, ABCC8-related (ABCC8), Fanconi anemia, complementation group C (FANCA), Fukuyama congenital muscular dystrophy (FKTN), Galactosemia (GALT), Gaucher disease (GBA), Glycogen storage disease, type Ia (G6PC1), Joubert syndrome 2 (TMEM216), Maple syrup urine disease, type 1B (BCKDHB), Medium-chain acyl-CoA dehydrogenase deficiency (ACADM), Mucolipidosis IV (MCOLN1), Nemaline myopathy 2 (NEB), Niemann-Pick disease, types A/B (SMPD1), Phenylalanine hydroxylase deficiency (PAH), Smith-Lemli-Opitz syndrome (DHCR7), Spinal muscular atrophy (SMN1), Tay-Sachs disease (HEXA), Usher syndrome, type 1F (PCDH15), Usher syndrome, type 3A (CLRN1).
