| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
QHerit™ Plus, Male
Test Code39988
CPT Codes
81443
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Includes
ABCC8, ABCD1, ACADM, ACADS, ACADVL, AGL, AGXT, ALDH3A2, ALDO8, ALPL, ARSA, ASL, ASPA, ASS1, ATM, ATP7B. BBS1, BBS2, BCKDHA/BCKDHB, BCS1L, BLM, BTD, CAPN3, CFTR, CLN3, CLN5, CLN8, CLRN1, CPT2, CTNS, CYP27A1, DHCR, DLD, F11, FAH, FANCC, FKTN, FMR1, G6PC, GAA, GALC, GALT, GBA, GBE1, GCDH, GJB2, GJB6, GNPTAB, HADHA, HBA1/HBA2, HBB, HEXA, HPS1, HPS3, HSD17B4, IDUA, IKBKAP, MCOLN1, MEFV, MMACHC, MPL, MTTP, NBN, NEB, NPHS1, OTC, PAH, PCCA, PCCB, PCDH15, PEX2, PKHD1, PMM2, PPT1, PROP1, SGCA, SGSH, SLC22A5, SLC26A2, SLC26A4, SMN, SMPD1, TMEM216, TPP1, USH2A
Preferred Specimen
10 mL whole blood collected in an EDTA (lavender-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.
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
NGS, 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: 7-8 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. 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 81 conditions including 21 autosomal recessive conditions contained in QHerit™. Conditions included in this panel: Abetalipoproteinemia (MTTP); Alpha-thalassemia (HBA1/HBA2); Argininosuccinic aciduria (ASL); Ataxia-telangiectasia (ATM); Autosomal recessive polycystic kidney disease (PKHD1); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Biotinidase deficiency (BTD); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase II deficiency (CPT2); Cerebrotendinous xanthomatosis (CYP27A1); Citrullinemia, type I (ASS1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined pituitary hormone deficiency, type 2 (PROP1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of glycosylation, type Ia (PMM2); Cystic fibrosis (CFTR); Cystinosis (CTNS); D-bifunctional protein deficiency (HSD17B4); Dihydrolipoamide dehydrogenase deficiency (DLD); Factor XI deficiency / Hemophilia C (F11); Familial dysautonomia (ELP1); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial Mediterranean fever (MEFV); Fanconi anemia, complementation group C (FANCC); Fukuyama congenital muscular dystrophy (Walker-Warburg) (FKTN); Galactosemia (GALT); Gaucher disease (GBA); Glutaric acidemia, type I (GCDH); Glycogen storage disease, type Ia (G6PC); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); GRACILE syndrome (BCS1L); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Hypophosphatasia (ALPL); Joubert syndrome 2 (TMEM216); Krabbe disease (GALC); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 3 (SGCA); Long chain 3-hydroxyacyl-coa dehydrogenase deficiency (HADHA); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Metachromatic leukodystrophy, ARSA-related (ARSA); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis, type IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Nemaline myopathy 2 (NEB); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); Primary hyperoxaluria, type I (AGXT); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasias, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spinal muscular atrophy (SMN1); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Tay-Sachs disease (HEXA); Tyrosinemia, type I (FAH); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Wilson disease (ATP7B); Zellweger spectrum disorders, PEX2-related (PEX2)
This test analyzes genetic variants associated with 81 conditions including 21 autosomal recessive conditions contained in QHerit™. Conditions included in this panel: Abetalipoproteinemia (MTTP); Alpha-thalassemia (HBA1/HBA2); Argininosuccinic aciduria (ASL); Ataxia-telangiectasia (ATM); Autosomal recessive polycystic kidney disease (PKHD1); Bardet-Biedl syndrome 1 (BBS1); Bardet-Biedl syndrome 2 (BBS2); Beta hemoglobinopathies (HBB); Biotinidase deficiency (BTD); Bloom syndrome (BLM); Canavan disease (ASPA); Carnitine deficiency, systemic primary (SLC22A5); Carnitine palmitoyltransferase II deficiency (CPT2); Cerebrotendinous xanthomatosis (CYP27A1); Citrullinemia, type I (ASS1); Combined methylmalonic aciduria and homocystinuria, cblC type / Cobalamin C deficiency (MMACHC); Combined pituitary hormone deficiency, type 2 (PROP1); Congenital amegakaryocytic thrombocytopenia (MPL); Congenital disorder of glycosylation, type Ia (PMM2); Cystic fibrosis (CFTR); Cystinosis (CTNS); D-bifunctional protein deficiency (HSD17B4); Dihydrolipoamide dehydrogenase deficiency (DLD); Factor XI deficiency / Hemophilia C (F11); Familial dysautonomia (ELP1); Familial hyperinsulinism, ABCC8-related (ABCC8); Familial Mediterranean fever (MEFV); Fanconi anemia, complementation group C (FANCC); Fukuyama congenital muscular dystrophy (Walker-Warburg) (FKTN); Galactosemia (GALT); Gaucher disease (GBA); Glutaric acidemia, type I (GCDH); Glycogen storage disease, type Ia (G6PC); Glycogen storage disease, type II / Pompe disease (GAA); Glycogen storage disease, type III (AGL); Glycogen storage disease, type IV / Adult polyglucosan body disease (GBE1); GRACILE syndrome (BCS1L); Hereditary fructose intolerance (ALDOB); Hermansky-Pudlak syndrome, type 1 (HPS1); Hermansky-Pudlak syndrome, type 3 (HPS3); Hypophosphatasia (ALPL); Joubert syndrome 2 (TMEM216); Krabbe disease (GALC); Limb-girdle muscular dystrophy, type 2A (CAPN3); Limb-girdle muscular dystrophy, type 3 (SGCA); Long chain 3-hydroxyacyl-coa dehydrogenase deficiency (HADHA); Maple syrup urine disease, type 1A (BCKDHA); Maple syrup urine disease, type 1B (BCKDHB); Medium chain acyl-CoA dehydrogenase deficiency (ACADM); Metachromatic leukodystrophy, ARSA-related (ARSA); Mucolipidosis II and mucolipidosis III alpha/beta (GNPTAB); Mucolipidosis, type IV (MCOLN1); Mucopolysaccharidosis, type I / Hurler syndrome (IDUA); Mucopolysaccharidosis, type IIIA / Sanfilippo syndrome A (SGSH); Nemaline myopathy 2 (NEB); Neuronal ceroid lipofuscinosis, CLN3-related (CLN3); Neuronal ceroid lipofuscinosis, CLN5-related (CLN5); Neuronal ceroid lipofuscinosis, CLN8-related (CLN8); Neuronal ceroid lipofuscinosis, PPT1-related (PPT1); Neuronal ceroid lipofuscinosis, TPP1-related (TPP1); Niemann-Pick disease, types A/B (SMPD1); Nijmegen breakage syndrome (NBN); Nonsyndromic hearing loss and deafness (DFNB) 1 (GJB2); Pendred syndrome (SLC26A4); Phenylalanine hydroxylase deficiency (PAH); Primary hyperoxaluria, type I (AGXT); Propionic acidemia, PCCA-related (PCCA); Propionic acidemia, PCCB-related (PCCB); Sjogren-Larsson syndrome (ALDH3A2); Skeletal dysplasias, SLC26A2-related (SLC26A2); Smith-Lemli-Opitz syndrome (DHCR7); Spinal muscular atrophy (SMN1); Steroid resistant nephrotic syndrome, type 1 (NPHS1); Tay-Sachs disease (HEXA); Tyrosinemia, type I (FAH); Usher syndrome, type 1F (PCDH15); Usher syndrome, type 2A (USH2A); Usher syndrome, type 3A (CLRN1); Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL); Wilson disease (ATP7B); Zellweger spectrum disorders, PEX2-related (PEX2)
