Inheritest® Core Panel

CPT: Contact coding department at 800-222-7566 ext. 6-8400.
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Test Details

Use

Carrier screening for cystic fibrosis (97 mutations), spinal muscular atrophy, and fragile X syndrome

Limitations

False positive or false negative results may occur for reasons that include: genetic variants, technical handling, blood transfusions, bone marrow transplantation, mislabeling of samples, or erroneous representation of family relationships.

This test was developed, and its performance characteristics determined, by Esoterix Genetic Laboratories. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Methodology

CFplus: DNA is isolated from the sample and tested for the 97 CF mutations listed. Regions of the CFTR gene are amplified enzymatically and subjected to a solution-phase multiplex allele-specific primer extension with subsequent hybridization to a bead array and fluorescence detection. Some mutations are then specifically identified by bidirectional dideoxysequencing.

Fragile X Carrier: Highly sensitive PCR Analysis, with reflex to Southern Blot analysis for all positive samples. SMN1 (SMA): Real-time polymerase chain reaction (PCR).

Specimen Requirements

Specimen

Whole blood

Volume

10 mL

Container

Yellow-top (ACD-A) tube or lavender-top (EDTA) tube

Storage Instructions

Maintain specimen at room temperature or refrigerate at 4 degrees C.

Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container

Clinical Information

Special Instructions

Please include patient gender. Specimens must be accompanied by a completed consent form.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
451964 Inheritest Core(CF97,SMA,FraX) 451965 Genetic Counselor N/A
451964 Inheritest Core(CF97,SMA,FraX) 451966 Specimen Type 31208-2
451964 Inheritest Core(CF97,SMA,FraX) 451967 Ethnicity 42784-9
451964 Inheritest Core(CF97,SMA,FraX) 451968 Indictation: 42349-1
451964 Inheritest Core(CF97,SMA,FraX) 452013 Results: 50397-9
451964 Inheritest Core(CF97,SMA,FraX) 451971 General Comments 8262-8
451964 Inheritest Core(CF97,SMA,FraX) 451972 Additional Clinical Info 55752-0
451964 Inheritest Core(CF97,SMA,FraX) 451973 Method/Limitations 49549-9
451964 Inheritest Core(CF97,SMA,FraX) 451974 Information Table 36908-2
451964 Inheritest Core(CF97,SMA,FraX) 451975 Disclaimer: 62364-5
451964 Inheritest Core(CF97,SMA,FraX) 451977 PDF 51969-4
451964 Inheritest Core(CF97,SMA,FraX) 451976 Director Review 72486-4
451964 Inheritest Core(CF97,SMA,FraX) 452015 Order Review N/A

For Providers

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CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2018, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf