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Test of GBA

Test code: GX

Test Inquiry

Test code: GX

Test Inquiry

Test of GBA

Whole gene sequencing for GBA gene by long-range PCR and NGS.

View test information

Test Code	GX
Test Summary	Whole gene sequencing for GBA gene by long-range PCR and NGS.
Turn Around Time	15 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: GX

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

Use long-range PCR and NGS method to detect GBA variations. This test analyzes the GBA gene that has been associated with Gaucher disease. All variants are classified according to ACMG guidelines.

Indications for testing

People with definite symptoms of related genetic diseases.
People with a family history of related genetic disorders.

Condition description

Gaucher disease is associated with accumulation of harmful lipids throughout the body. There are 5 types of Gaucher disease. Type 1 Gaucher disease is the most common form, with a variable age of onset and symptom severity. Symptoms typically include hepatosplenomegaly, anemia, easy bruising, lung disease, and bone abnormalities. Type 2 and Type 3 Gaucher disease both affect the central nervous system and symptoms typically include the symptoms of Type 1 Gaucher disease plus abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease typically onsets in infancy and rapidly progresses, while Type 3 Gaucher disease typically progresses slower. The perinatal lethal form of Gaucher disease has symptom onset during pregnancy or in early infancy. Symptoms include hydrops fetalis, ichthyosis, skin abnormalities, hepatosplenomegaly, distinct facial features, and severe neurological problems. Death usually occurs a few days after birth. The cardiovascular form of Gaucher disease typically show symptoms of calcified heart valves, eye abnormalities, bone disease, and splenomegaly. The incidence of Gaucher disease is estimated to be ~ 1 in 50,000.

Test methods and limitations

This test uses Long-range PCR and next-generation sequencing technology. Sequencing is performed on genomic DNA. Direct sequencing of the amplified captured regions was performed on Illumina next generation sequencing (NGS) systems. A base is considered to have sufficient coverage at 20X and an exon is considered fully covered if all coding bases plus three nucleotides of flanking sequence on either side are covered at 20X or more. Low coverage regions, if any, are limited to ~1% or less of the nucleotides in the test unless a pathogenic variant explaining the phenotype is discovered. A list of these regions is available upon request. Alignment to the human reference genome (hg19) is performed and annotated variants are identified in the targeted region. Variants are called at a minimum coverage of 8X and an alternate allele frequency of 20% or higher. Single nucleotide variants (SNVs) meeting internal quality assessment guidelines are confirmed by Sanger sequence analysis for records after results are reported. Indels and SNVs are confirmed by Sanger sequence analysis before reporting at director discretion. This assay cannot detect variants in regions of the exome that are not covered, such as deep intronic, promoter and enhancer regions, areas containing large numbers of tandem repeats, and variants in mitochondrial DNA. Copy number variation (CNV) analysis detects deletions and duplications; in some instances, due to the size of the exons, sequence complexity, or other factors, not all CNVs may be analyzed or may be difficult to detect.

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.

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We are here to answer your questions.

Revvity Sites Globally

Test of GBA

Test of GBA

Test of GBA

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 GBA

Test of GBA

Test of GBA

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?