Test ID: SCADK
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency, Known Mutation
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Confirmation of diagnosis of short-chain acyl-CoA dehydrogenase (SCAD) deficiency (as a follow-up to the biochemical analyses) for individuals from families in which known familial mutations have been previously identified
Carrier screening for individuals at risk for a known familial SCAD gene mutation
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Documentation of the specific familial mutation must be provided with the specimen in order to perform this test.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name A short description of the method used to perform the test
Polymerase Chain Reaction (PCR)/DNA Sequencing Analysis
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
SCAD (Short-Chain Acyl-CoA Dehydrogenase) Deficiency
Short-Chain Acyl-CoA Dehydrogenase (SCAD)
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
This test can only be performed if a mutation has previously been identified in a family member of this individual.
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 (Supply T576) is available in Special Instructions.
2. Molecular Genetics-Biochemical Disorders Patient Information Sheet (Supply T527) in Special Instructions
3. If not ordering electronically, submit a Molecular Genetics Request Form (Supply T245) with the specimen.
Specimen must 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 24 hours
Specimen Type: Blood spots
Container/Tube: Whatman Protein Saver 903 Paper
Specimen Volume: 5 blood spots
Collection Instructions:
1. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.
2. Do not expose specimen to heat or direct sunlight.
3. Do not stack wet specimens.
4. Keep specimen dry.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
No specimen should be rejected. If specimen is received in wrong anticoagulant or at an inappropriate temperature, include note to lab. If questions, contact lab.
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Varies | |
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Short-chain acyl-CoA dehydrogenase (SCAD) catalyzes the first step in the mitochondrial beta-oxidation of fatty acids with a chain length of 6 to 4 carbons. SCAD deficiency is a rare autosomal recessive condition. The clinical phenotype of SCAD shows considerable variability and is incompletely defined. Of those reported cases, hypoglycemia, developmental delay, and muscle hypotonia are the most common indicated features. The diagnosis of SCAD deficiency is challenging and should be based on the clinical presentation, 2 or more findings of ethylmalonic aciduria, and determination of fatty acid flux in fibroblasts indicating deficient SCAD activity. Molecular genetic analysis of the gene associated with SCAD (ACADS) may confirm the biochemical phenotype of SCAD deficiency.
The first step in evaluation for SCAD deficiency is identification of 2 or more findings of ethylmalonic aciduria, as determined by either OAU/80619 Organic Acids Screen, Urine or ACYLG/81249 Acylglycines, Quantitative, Urine. Ethylmalonic aciduria is a common, although not specific, laboratory finding in patients with SCAD deficiency. Determination of fatty acid flux in fibroblasts (FAO/81927 Fatty Acid Oxidation Probe Assay, Fibroblast Culture) is warranted for an individual with 2 or more findings of ethylmalonic aciduria.
DNA sequencing of the ACADS gene is typically utilized only when SCAD deficiency is identified through biochemical analysis. The ACADS gene is located on chromosome 12q22 and consists of 10 exons. Molecular genetic studies revealed that some patients carry ACADS gene mutations that cause complete absence of SCAD activity, while others carry ACADS gene variants (511C->T;625G->A) that may confer disease susceptibility only in association with other factors. The allele frequencies in the general population of the 511C->T and 625G->A gene variants are 3% and 22%, respectively. The presence of 2 of these gene variants are not considered an independent diagnostic marker for SCAD deficiency. Although further investigation is needed, it is most likely that these variants are not clinically significant.
Identification of 2 ACADS gene mutations that cause complete absence of SCAD activity alone is not sufficient to explain or determine possible clinical phenotype or prognosis. The clinical significance of carrying 2 mutations is often uncertain. Therefore, the results of ACADS gene sequencing for SCAD deficiency should be interpreted in light of the clinical presentation and biochemical findings in each case.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation Provides information to assist in interpretation of the test results
An interpretive report will be provided.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
The identification of a disease-causing mutation in an affected family member is necessary before predictive testing for other family members can be offered. If a familial mutation has not been previously identified, order SCADM/83939 Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency, Mutation Screen.
Analysis is performed for the familial mutations provided only. This assay does not rule out the presence of other mutations within this gene or within other genes that may be associated with metabolic disease.
We strongly recommend that patients undergoing predictive testing receive genetic counseling both prior to testing and after results are available.
Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Any error in the diagnosis or in the pedigree provided to us, including false paternity, could lead to an erroneous interpretation of results.
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Nagan N, Kruckeberg KE, Tauscher AL, et al: The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots. Mol Genet Metab 2003 April;78:239-246
2. Corydon MJ, Vockley J, Rinaldo P, et al: Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 2001 January;49(1):18-23
3. van Maldegem BT, Duran M, Wanders RJ, et al: Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA 2006 August;296(8):943-952
Method Description Describes how the test is performed and provides a method-specific reference
DNA sequencing is used to test for the presence of the specific mutations previously identified in an affected family member.(Unpublished Mayo method)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Tuesday; 10 a.m.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
81403-Known familial variant not otherwise specified, for gene listed in Tier 1 or Tier 2, DNA sequence analysis, each variant exon
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| 23164 | Specimen | 31208-2 |
| 23165 | Specimen ID | N/A |
| 23166 | Source | N/A |
| 23167 | Order Date | In Process |
| 23168 | Reason For Referral | 42349-1 |
| 23169 | Method | In Process |
| 23170 | Results | In Process |
| 23171 | Interpretation | 69047-9 |
| 23172 | Amendment | In Process |
| 23173 | Reviewed By: | N/A |
| 23174 | Release Date | N/A |
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