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DMD Del/Dup Testing by MLPA

Test code: D5020

Test Inquiry

Test code: D5020

Test Inquiry

DMD Del/Dup Testing by MLPA

This test analyzes the DMD gene for deletions and duplications by MLPA.

View test information

Test Code	D5020
Test Summary	This test analyzes the DMD gene for deletions and duplications by MLPA.
Turn Around Time	10 - 12 days
Acceptable Sample Types	DNA, Isolated , Dried Blood Spots , Saliva , Whole Blood (EDTA)
Acceptable Billing Types	Institutional Billing , Self (patient) Payment
NY Approved	No
CPT Codes**	81161(x1)

*TAT starts after the sample and all required sample information is received at the processing laboratory.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.

Test code: D5020

Download PDF Version

Resources

General Biochemical and Molecular Requisition Form

This test is not available in your region Japan, please select your nearest laboratory to request more information.

Test Inquiry

Test information

Test description

This panel analyzes the DMD gene for deletions/duplications (CNV). All analysis is performed utilizing multiplex ligation-dependent probe amplification (MLPA) technology. All variants are classified according to American College of Genetics and Genomics (ACMG) guidelines.

Condition description

Duchenne muscular dystrophy (DMD) is a inherited muscular dystrophy. DMD usually presents in early childhood with delayed motor milestones. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping and standing up from a squatting position. DMD is progressive with affected children being wheelchair dependent by age 12. Cardiomyopathy occurs in almost all individuals with DMD after age 18. DMD in in herited in an X linked manner. (NCBI, genereviews)

Genes

DMD

Test methods and limitations

Isolated DNA is evaluated for DMD gene deletions and duplications of one or more exons using multiplex ligation polymerase chain reaction amplification (MLPA). Small pathogenic variants within the exon, some small intragenic deletions or duplications, as well as complex rearrangements such as inversions or insertions may not be detected. Other pathogenic variants in the DMD gene, such as those in promoter or deep intronic regions, will not be detected by this assay.

Detailed sample requirements

Dried Blood Spots

Test Details Page
Collection Container(s)	Dried blood spot card
Collection	Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours. NBS: Please contact Revvity Omics to request the StepOne^® kit. Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit. For pre-punched DBS: The required minimum is 6 punches
Sample Condition	Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.
Shipping	Follow kit instructions. Double bag and ship overnight at ambient temperature.

DNA, Isolated

Test Details Page
Collection	Required DNA Quantity by Test Type: Next Generation Sequencing (NGS):* Send >1000 ng total gDNA @ >15 ng/μL. Please ship samples in 10mM Tris. Do not use EDTA. Sanger Sequencing: Send >500 ng total gDNA @ >15 ng/μL (varies by the size of the gene and the variants requested). Non-Sanger Sequencing Tests: Send >500 ng total gDNA @ >15 ng/μL.
Sample Condition	* Required DNA Quality: High molecular weight DNA (>12kb). A260/A280 reading should be ≥ 1.8. A260/230 a ratio range of 1.8 to 2.2. Contact the laboratory for specific amounts if total ng cannot be met.
Shipping	Ship overnight at ambient temperature.
SPECIAL SAMPLE INSTRUCTIONS	Research Laboratories: DNA extracted in research laboratories is not acceptable. Only under exceptional circumstances (e.g., proband not available) will DNA extracted in a research laboratory be accepted for clinical testing. Additional testing (e.g., of other family members) may be required to confirm results. Laboratories outside the United States: Non-US laboratories are not subject to CLIA regulations and will be reviewed on a case-by-case basis. Please call to speak with a laboratory genetic counselor before submitting a DNA sample from any non-CLIA-certified laboratory. Special Notes: If extracted DNA is submitted, information regarding the method used for extraction should be sent along with the sample.

Whole Blood (EDTA)

Test Details Page
Collection Container(s)	EDTA (purple top)
Collection	Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation.
Sample Condition	Store at ambient temperature. Do not refrigerate or freeze.
Shipping	Ship overnight at ambient temperature ensuring receipt within 5-days of collection.
SPECIAL SAMPLE INSTRUCTIONS	Clotted or hemolyzed samples are not accepted.

Saliva

Test Details Page
Collection Container(s)	Oragene™ Saliva Collection Kit or ORAcollect-Dx kit
Collection	Collect saliva on an Oragene™ Saliva Collection Kit ORAcollect-Dx kit according to the manufacturer's instructions.
Sample Condition	Store at ambient temperature. Do not refrigerate or freeze.
Shipping	Ship overnight at ambient temperature.
SPECIAL SAMPLE INSTRUCTIONS	Please contact Revvity Omics to request the saliva collection kit for patients who cannot provide a blood sample as whole blood is the preferred sample. Testing using Saliva swabs is currently not available for customers in India. Contact the Revvity Omics laboratory for more information.

Resources

General Biochemical and Molecular Requisition Form

How To Order

Step 1

Choose Your Test

Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.

Step 2

Collect Sample

Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.

Step 3

Send Samples

Send samples and all required forms back to Revvity for processing using pre-paid shipping label.

How can we help you?

We are here to answer your questions.

Revvity Sites Globally

DMD Del/Dup Testing by MLPA

DMD Del/Dup Testing by MLPA

DMD Del/Dup Testing by MLPA

About this test

Specifications

Test information

Test description

Condition description

Genes

Test methods and limitations

Detailed sample requirements

Dried Blood Spots

DNA, Isolated

Whole Blood (EDTA)

Saliva

Resources

How To Order

Choose Your Test

Collect Sample

Send Samples

How can we help you?

Revvity Sites Globally

DMD Del/Dup Testing by MLPA

DMD Del/Dup Testing by MLPA

DMD Del/Dup Testing by MLPA

About this test

Specifications

Revvity Sites Globally

Test information

Test description

Condition description

Genes

Test methods and limitations

Detailed sample requirements

Dried Blood Spots

DNA, Isolated

Whole Blood (EDTA)

Saliva

Resources

How To Order

Choose Your Test

Collect Sample

Send Samples

1. Build Your Custom Panel

2. Complete and print the test requisition

3. Collect and Send Patient Sample

How can we help you?