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Test ID ECSP Expanded Carrier Screen for Select Genetic Disorders, 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 preferred to arrive within 96 hours of collection.



Specimen Required


Specimen Type: Whole blood

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

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

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.


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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

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

3. Targeted Variants Interrogated by Expanded Carrier Screen Panels in Special Instructions

Useful For

Expanded carrier screening for reproductive risk assessment purposes

 

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

Testing Algorithm

When this test is ordered, molecular analysis for Fragile X syndrome, will always be performed at no additional charge.

Method Name

Targeted Genotyping Array/Polymerase Chain Reaction (PCR)

Reporting Name

Expanded Carrier Screen Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

An interpretive report will be provided.

Day(s) Performed

Thursday, Sunday

Report Available

14 to 42 days

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

81443

81243

LOINC Code Information

Test ID Test Order Name Order LOINC Value
ECSP Expanded Carrier Screen Panel 98039-1

 

Result ID Test Result Name Result LOINC Value
606015 Result Summary 50397-9
606016 Result 82939-0
606017 Additional Results In Process
606018 Offspring Risk In Process
606019 Clinical Summary 55752-0
606020 Additional Information 48767-8
606021 Other Identified Alleles In Process
606022 Method 85069-3
606023 Disclaimer 62364-5
606024 Specimen 31208-2
606025 Source 31208-2
606026 Released By 18771-6