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26536 Inheritest® CF/SMA Panel (481758)

Inheritest® CF/SMA Panel (481758)
Test Code: CFSMASO
Synonyms/Keywords

​Carrier screening

Pan-ethnic carrier screening

CFTR

SMN1

Test Components

​​CFTR and SMN1 genes

Useful For

​This test is used for carrier screening for cystic fibrosis and spinal muscular atrophy.

Specimen Requirements

Specimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen Volume​Specimen Minimum Volume
(allows for 1 repeat)
​Whole blood
ACD-A ​YellowTop Tube (YTT)
​
EDTA Lavender Top Tube (LTT)

​8.5 mL
​3 mL
Collection Processing Instructions

Do NOT Freeze​

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.​

Specimen Stability Information

Specimen TypeTemperatureTime

​​Whole blood
​
​Refrigerated

​4 days

​​

​Ambient
Rejection Criteria

Frozen specimen

Hemolyzed specimen

Quantity not sufficient for analysis

Improper container

Blood specimens more than four days post draw.

Interference

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

Performing Laboratory Information
Performing LocationDay(s) Test PerformedAnalytical TimeMethodology/Instrumentation​

Integrated Genetics 

(Women's Health and Genetics - LabCorp)
​Monday through Friday
​14 - 21 days
(In some cases, additional time may be required for confirmatory or reflex tests)
​

Cystic fibrosis: Next Generation Sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).

​Spinal muscular atrophy (SMA): Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR). For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0).

Reference Lab
Integrated Genetics
Reference Range Information

Interpretative Report

Interpretation

​​Interpretative Report

Outreach CPTs
CPTModifier
(if needed)		QuantityDescriptionComments

​81220
​

​1
​

​

​81329
​

​1
​​
Synonyms/Keywords

​Carrier screening

Pan-ethnic carrier screening

CFTR

SMN1

Test Components

​​CFTR and SMN1 genes

Ordering Applications
Ordering ApplicationDescription

​​Cerner
​Inheritest CF/SMA Panel (452172)​

If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements

Specimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen Volume​Specimen Minimum Volume
(allows for 1 repeat)
​Whole blood
ACD-A ​YellowTop Tube (YTT)
​
EDTA Lavender Top Tube (LTT)

​8.5 mL
​3 mL
Collection Processing

Do NOT Freeze​

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.​

Specimen Stability Information

Specimen TypeTemperatureTime

​​Whole blood
​
​Refrigerated

​4 days

​​

​Ambient
Rejection Criteria

Frozen specimen

Hemolyzed specimen

Quantity not sufficient for analysis

Improper container

Blood specimens more than four days post draw.

Interference

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

Useful For

​This test is used for carrier screening for cystic fibrosis and spinal muscular atrophy.

Test Components

​​CFTR and SMN1 genes

Reference Range Information

Interpretative Report

Interpretation

​​Interpretative Report

For more information visit:
Performing Laboratory Information
Performing LocationDay(s) Test PerformedAnalytical TimeMethodology/Instrumentation​

Integrated Genetics 

(Women's Health and Genetics - LabCorp)
​Monday through Friday
​14 - 21 days
(In some cases, additional time may be required for confirmatory or reflex tests)
​

Cystic fibrosis: Next Generation Sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).

​Spinal muscular atrophy (SMA): Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR). For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0).

Reference Lab
Integrated Genetics
For billing questions, see Contacts
Outreach CPTs
CPTModifier
(if needed)		QuantityDescriptionComments

​81220
​

​1
​

​

​81329
​

​1
​​
For most current information refer to the Marshfield Laboratory online reference manual.