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Test Directory QHerit™ Expanded Carrier Screen

QHerit™ Expanded Carrier Screen

Test Summary

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.

Aliases

Specimen Collection

Special Instructions

N/A

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 the four tubes

Instructions

N/A

Patient Preparation

N/A

Storage

N/A

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 14 days
Refrigerated: 8 days
Frozen: Unacceptable

Limitations

N/A

Other Acceptable Specimens

Whole blood collected in a heparin (green-top) tubes

Unacceptable Specimens

Do not accept blood that is clotted, or shipped in damaged containers

Order Code

QHERIT

EPIC (Premier) Code

LAB6762

Includes

HBA1/HBA2, HBB, BLM, ASPA, DLD, ELP1/IKBKAP, ABCC8, FANCC, BGBA, GSDIA/G6PC, TMEM216, MSUD, MCOLN1, NEB, SMPD1, HEXA, PCDH15, CLRN1, FKTN, CFTR, FMR1, SMN1/SMN2

CPT Code

81443
81243
81329

Billing Code

CPT Statement

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

FDA Status

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Physician Attestation of Informed Consent

N/A

Testing Laboratory

Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano CA, 92675

Department

Reference Testing

Reference Range

See Laboratory Report

Setup Schedule / Expected Turnaround Time

Monday, Saturday; Report available: 1 1- 17 days (If reflex testing required, please add 6 - 8 days)