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STAT GBA Gene Test

Omics test Model
Test Code D5032F
Test Summary This test analyzes the GBA gene, which is associated with Gaucher disease.
Turn Around Time 7 - 10 days
Acceptable Sample Types DNA , Dried Blood Spots , Saliva , Whole Blood (EDTA)
Acceptable Billing Types Institutional Billing , Self (patient) Payment
NY Approved Yes
Self (patient) Price $1,320.00
Institutional Price $1,320.00
CPT Codes** 81251(x1), 81479(x1)
*TAT starts after the sample and all required sample information is received, or after the benefits investigation is complete if requested for commercial insurance billing.

**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.
This test is not available in your region United States, please select your nearest laboratory to request more information.
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Test Description

Both sequencing and deletion/duplication (CNV) analysis will be performed on the coding regions of the GBA gene. Seqeuncing is performed via long-range PCR followed by sequencing via NGS technology. Copy number variation (CNV) analysis, via MLPA, is used to detect deletions and duplications. All variants are classified according to American College of Genetics and Genomics (ACMG) guidelines.

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. Types 2 and 3 both affect the central nervous system and symptoms typically include those associated with Type 1 as well as abnormal eye movements and seizures. Type 2 Gaucher disease typically presents in infancy and progresses rapidly progresses, while Type 3 is associated with a slower progression. The perinatal lethal form of Gaucher disease is characterized by onset during pregnancy or in early infancy. Symptoms include hydrops fetalis, ichthyosis, skin abnormalities, hepatosplenomegaly, distinct facial features, and severe neurological phenotypes. Death usually occurs a few days after birth. The cardiovascular form of Gaucher disease is chartacterized by 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

Long-range PCR is performed to capture the true GBA genomic sequence from this individual’s genomic DNA to avoid pseudogene contaminants. PCR product was utilized to prepare the library and further sequenced using NGS technology on an Illumina system with 150 base pair paired-end reads. Indels and SNVs are confirmed by Sanger sequence analysis before reporting at director discretion. This analysis cannot detect variants in regions not analyzed such as promoters, deep intronic regions, or long repetitive regions. CNV analysis was assessed using MLPA or by manual review of NGS reads using IGV viewer. This analysis cannot determine the location or orientation of a duplication. Copy neutral gene conversion or fusion, complex rearrangement, or large deletion including the entire GBA gene with breakpoint(s) outside the targeted region may not be detected by this assay. This assay is not designed to detect mosaicism; possible cases of mosaicism may be investigated at the discretion of the laboratory director. Primary data analysis is performed using Illumina bcl2fastq converter v2.19. Secondary analysis is performed using Illumina DRAGEN Bio-IT Platform v.3.10.8. Tertiary data analysis is performed using SnpEff v5.0 and Revvity Omics’ internal ODIN v.1.01 software.

Detailed Sample Requirements

DNA, Isolated
Test Details Page

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.
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.
Dried Blood Spots
Test Details Page
Collection Container(s) Dried blood spot card

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.