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QHerit™ 28 Diseases, Female
Test Code18294
CPT Codes
81243, 81443
Preferred Specimen
10 mL whole blood collected in an EDTA (purple-top) tube
Minimum Volume
2 mL
Instructions
Patient's gender is required.
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.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. **Do not freeze. Do not reject.**
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 48 hours
Refrigerated: 14 days
Frozen: Unacceptable
Refrigerated: 14 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen • 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: 14 days
Reference Range
See Laboratory Report
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. 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 28 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), Duchenne/Becker muscular dystrophy, X-linked (DMD), Familial dysautonomia (ELP1), Familial hyperinsulinism, ABCC8-related (ABCC8), Fanconi anemia, complementation group C (FANCA), Fragile X syndrome (FMR1), 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 28 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), Duchenne/Becker muscular dystrophy, X-linked (DMD), Familial dysautonomia (ELP1), Familial hyperinsulinism, ABCC8-related (ABCC8), Fanconi anemia, complementation group C (FANCA), Fragile X syndrome (FMR1), 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).
