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Test Code SCADZ Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency, Full Gene Analysis

Useful For

Preferred molecular analysis to confirm a diagnosis of short-chain acyl-CoA dehydrogenase deficiency (as a follow-up to the biochemical analyses only)

Testing Algorithm

See Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma or serum C4 acylcarnitine elevation) in Special Instructions.

Method Name

Polymerase Chain Reaction (PCR)/DNA Sequence Analysis

Reporting Name

SCAD Deficiency, Full Gene Analysis

Specimen Type

Varies


Specimen Required


Forms:

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

2. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions

                                 

Specimen preferred to arrive within 96 hours of collection.

                      

Submit only 1 of the following specimens:

 

Preferred:                                                       

Specimen Type: Whole blood

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.

Specimen Stability Information: Ambient (preferred)/Refrigerated

             

Specimen Type: Cultured fibroblasts

Container/Tube: T-25 flask                    

Specimen Volume: 2 Full flasks

Specimen Stability Information: Ambient (preferred)/Refrigerated

 

Specimen Type: Blood spot

Container/Tube:

Preferred: Collection card (Whatman Protein Saver 903 Paper)

Acceptable: Ahlstrom 226 filter paper, or Blood Spot Collection Card (T493)

Specimen Volume: 2 to 5 Blood Spots on collection card (Whatman Protein Saver 903 Paper; Ahlstrom 226 filter paper; or Blood Spot Collection Card, T493)

Collection Instructions:

1. An alternative blood collection option for a patient >1 year of age is finger stick.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.


Specimen Minimum Volume

Blood: 1 mL/Blood Spots: 5 punches-3 mm diameter

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly, varies

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

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

CPT Code Information

81405-ACADS (acyl-CoA dehydrogenase C-2 to C-3 short chain) (eg, short chain acyl-CoA dehydrogenase deficiency), full gene sequence

LOINC Code Information

Test ID Test Order Name Order LOINC Value
SCADZ SCAD Deficiency, Full Gene Analysis In Process

 

Result ID Test Result Name Result LOINC Value
53123 Result Summary 50397-9
53124 Result No LOINC Needed
53125 Interpretation In Process
53126 Additional Information 48767-8
53127 Specimen 31208-2
53128 Source 31208-2
53129 Released By No LOINC Needed