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Test Code CSFP Carrier Screen, Focused Panel, Varies


Ordering Guidance


This test is specifically for carrier screening purposes and is not intended for diagnostic purposes.

 

If the reproductive partner is also having this test performed, call the lab for a revised risk assessment.

 

Targeted testing for familial variants (also called site-specific or known mutation testing) is available for all genes on this panel under FMTT / Familial Variant, Targeted Testing, Varies. Call 800-533-1710 to obtain more information about this testing option.



Shipping Instructions


 



Specimen Required


Patient Preparation: A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a hematopoietic stem cell transplant, call 800-533-1710.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days

Additional Information:

1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.

2. To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.

 

Specimen Type: Cord blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send cord blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days

Additional Information:

1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.

2. To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.

3. While a properly collected cord blood sample may not be at risk for maternal cell contamination, unanticipated complications may occur during collection. Therefore, maternal cell contamination studies are recommended to ensure the test results reflect that of the patient tested and are available at an additional charge. Order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.

 

Specimen Type: Extracted DNA

Container/Tube:

Preferred: Screw Cap Micro Tube, 2mL with skirted conical base

Acceptable: Matrix tube, 1 mL

Collection Instructions:

1. The preferred volume is at least 100 mcL at a concentration of 75 ng/mcL.

2. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated

Additional Information: DNA must be extracted in a CLIA-certified laboratory or equivalent and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). Our laboratory has experience with Chemagic, Puregene, Autopure, MagnaPure, and EZ1 extraction platforms and cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied. If applicable, specific gene regions that were unable to be interrogated due to DNA quality will be noted in the report.


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521)

Useful For

Expanded carrier screening for reproductive risk assessment purposes

 

This test is not useful for clinical diagnosis of an affected individual.

Genetics Test Information

This panel includes testing for select disease-associated variants in 7 genes for the purpose of carrier screening. This includes testing for select variants associated with the following conditions: alpha thalassemia, beta thalassemia, cystic fibrosis, fragile X syndrome, sickle cell anemia, and spinal muscular atrophy. For more information, see Targeted Variants Detected by Focused Carrier Screening Tests.

Method Name

Targeted Genotyping Array/Polymerase Chain Reaction (PCR)

Reporting Name

Carrier Screen, Focused Panel

Specimen Type

Varies

Specimen Minimum Volume

Specimen Required

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

Because an individual can be a carrier for an autosomal recessive condition without showing signs or symptoms, there is often no family history of such disorders. Therefore, without a family history, a reproductive couple may not know if they have an increased risk to have a child with a given genetic disorder. Carrier screening either before or during a pregnancy can help a reproductive couple further understand their risk to have a child with a genetic condition.

 

Carrier screening for genetic variants associated with cystic fibrosis (CF) and spinal muscular atrophy (SMA) are considered standard of care by American College of Obstetricians and Gynecologists and American College of Medical Genetics and Genomics.(1,2) However, screening for CF and SMA alone would miss other common conditions. This focused test screens for select variants associated with the following conditions: alpha thalassemia, beta thalassemia, cystic fibrosis, fragile X syndrome, sickle cell anemia, and spinal muscular atrophy. It is recommended that screening tests be offered to all couples regardless of their ancestry.(2)

 

If there is a history of a genetic condition in the family, it is recommended that the at-risk partner be tested for the known variant in the family. In order to confirm that the familial variant is covered by this test, contact the laboratory to facilitate testing; call 800-533-1710.

Reference Values

An interpretive report will be provided.

Interpretation

All reported variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(3) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Day(s) Performed

Varies

Report Available

7 to 21 days

Specimen Retention Time

Whole blood: 28 days (if available); Extracted DNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81220

81329

81479

81257

81363

81222

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CSFP Carrier Screen, Focused Panel 98039-1

 

Result ID Test Result Name Result LOINC Value
608337 Result Summary 50397-9
608338 Result 82939-0
608339 Additional Results 82939-0
608340 Offspring Risk 105127-5
608341 Clinical Summary 55752-0
608342 Additional Information 48767-8
608343 Other Identified Alleles 48008-7
608344 Method 85069-3
608345 Disclaimer 62364-5
608346 Specimen 31208-2
608347 Source 31208-2
608348 Released By 18771-6