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94372: Qherit™ Expanded Carrier Screen Print View
Overall Interpretation      
Negative Summary Statement      
Summary 1      
Interpretation 1      
Additional Information 1      
Summary 2      
Interpretation 2      
Additional Information 2      
Disease 3      
Summary 3      
Result 3      
Interpretation 3      
Additional Information 3      
Disease 4      
Summary 4      
Result 4      
Interpretation 4      
Additional Information 4      
Disease 5      
Summary 5      
Result 5      
Interpretation 5      
Additional Information 5      
Disease 6      
Summary 6      
Result 6      
Interpretation 6      
Additional Information 6      
Disease 7      
Summary 7      
Result 7      
Interpretation 7      
Additional Information 7      
Fragile X CGG Repeats      
Residual Risk Table      
Variants Tested Table      

1 Whole Blood EDTA 1.5 (1) mL   Room Temperature - 14 Day(s)/Refrigerated - 8 Day(s)  
  Whole Blood Heparin 1.5 (1) mL   Refrigerated - 8 Day(s)/Room Temperature - 14 Day(s)  
  Whole Blood ACD 1.5 (1) mL   Refrigerated - 8 Day(s)/Room Temperature - 14 Day(s)  

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. 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.
Setup Schedule

Reported (Analytical Time)
10 days

CPT Codes

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**This test is not available for California and Nevada patient testing **

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, NJ, NY, OR, SD or VT or test is performed in MA.

Reflex occurs when the initial PCR results indicate the presence of either a premutation or a full mutation.

Report available 10-15 days; If reflex testing is required, please add 5-7 days

Specimen Requirements: 1.5 mL (1 mL minimum) whole blood collected in each of four EDTA (lavender-top) or ACD (yellow-top) tubes

Reject Criteria: Do not accept blood that is clotted or shipped in damaged containers.
Transport Temperature: Room temperature
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

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