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Test of DMD

Test code: DM

Test Inquiry

Test code: DM

Test Inquiry

Test of DMD

DMD whole gene sequenced by CREV4; MLPA.

View test information

Test Code	DM
Test Summary	DMD whole gene sequenced by CREV4; MLPA.
Turn Around Time	10 - 12 days
Acceptable Sample Types	DNA, Isolated , Dried Blood Spots , Whole Blood (EDTA)
NY Approved	No

*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: DM

Download PDF Version

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 test analyzes the DMD gene that has been associated with Duchenne/Becker Muscular Dystrophy disorders utilizing Next Generation Sequencing (NGS) technology and MLPA method. Both sequencing and deletion/duplication (CNV) analysis will be performed. All variants are classified according to ACMG guidelines.

Indications for testing

This test may be appropriate for individuals with a clinical suspicion of Duchenne/Becker Muscular Dystrophy and/or for indiviudals with a family history of Duchenne/Becker Muscular Dystrophy.

Condition description

Duchenne and Becker muscular dystrophies are two related conditions that primary affect skeletal muscles which are used for movement and heart muscle. Duchenne and Becker occur almost exclusively in males. Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused by different mutations in the same gene. Duchenne and Becker muscular dystrophies together affect 1 in 3500 to 5000 newborn males worldwide and are caused by mutations in the DMD gene. Approximately 60% of pathogenic variants in the DMD gene are deletions of one or more exons, approximately 5% are duplications of one or more exons, and approximately 35% are small pathogenic variants within the exon.

Test methods and limitations

Next-generation sequencing; MLPA

Detailed sample requirements

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.

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.

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

Test of DMD

Test of DMD

Test of DMD

About this test

Specifications

Test information

Test description

Indications for testing

Condition description

Test methods and limitations

Detailed sample requirements

DNA, Isolated

Whole Blood (EDTA)

Dried Blood Spots

How To Order

Choose Your Test

Collect Sample

Send Samples

How can we help you?

Revvity Sites Globally

Test of DMD

Test of DMD

Test of DMD

About this test

Specifications

Revvity Sites Globally

Test information

Test description

Indications for testing

Condition description

Test methods and limitations

Detailed sample requirements

DNA, Isolated

Whole Blood (EDTA)

Dried Blood Spots

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?