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Gaucher Disease via the GBA1/GBA Gene

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Summary and Pricing

Test Method

Bi-Directional Sanger Sequencing

New York State Approved Test

Test Code	Test Copy Genes	Test CPT Code	Gene CPT Codes Copy CPT Codes	Base Price
GBA1	81479	81479	$990

Test Code	Test Copy Genes	Test CPT Code	Gene CPT Codes Copy CPT Code	Base Price
479	GBA1	81479	81479	$990	Order Options and Pricing

EMAIL CONTACTS

Genetic Counselors

Genetic Counselor Team

Geneticist

Jana Paderova, PhD

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

4 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Genetic Counselor Team

Geneticist

Jana Paderova, PhD

Clinical Features and Genetics

Indications for Test

Patients with clinical diagnosis of Gaucher disease and heterozygous carrier relatives are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in GBA.

Clinical Features

Gaucher Disease (GD) is one of several disorders of sphingolipid degradation, known as sphingolipidoses. Each sphingolipidosis is associated with defects of a specific lysosomal enzyme or other protein involved in sphingolipid degradation with subsequent accumulation of substrate in one or more organs. In patients with GD, a defective acid beta-glucocerebrosidase enzyme results in the progressive accumulation of glucocerebroside in reticuloendothelial cells with subsequent damage to various organs, including the liver, spleen, bone marrow, lungs and central nervous system (Brady et al. 1965). Three GD Types (I, II and III) can be distinguished, according to the presence or absence of central nervous system abnormalities, age of onset, severity and progression. The earliest manifestations of GD are usually hematological abnormalities due to hypersplenism. Additional features are variable and include cytopenia, splenomegaly and bone fractures. GD patients are also classified using the Zimran Severity Score Index (Zimran et al. 1992). GD occurs in diverse ethnic groups, with an estimate incidence of 1 in 20,000 worldwide. However, GD Type 1 is more prevalent in the Ashkenazi Jewish population, with an estimated prevalence of 1:855 and a carrier frequency of 1:18 (Beutler et al. 1993; Pastores and Hughes 2015).

Genetics

Types I, II and III GD are inherited in an autosomal recessive manner and are caused by defects in the GBA1/GBA gene (Tsuji et al. 1987). About 380 pathogenic variants, distributed along the entire coding region of the gene, have been reported. The majority are missense, although all types of variants have been reported, including complex rearrangements that result from homologous recombination between the functional GBA1 gene and its pseudogene (Tayebi et al. 2003; Human Gene Mutation Database).At least 20 different complex alleles are known, which include recombinant alleles, fusion alleles, and gene conversions. Specifically, a 55-bp deletion that results from a gene conversion from the pseudogene is reported in up to 4% of patients (Beutler et al. 1993; Tayebi et al. 1996). This deletion occurs also as a part of a recombinant allele that includes four variants D409H, L444P, A456P and V460V (Hatton et al. 1997; Tayebi et al. 1998).The GBA1 gene encodes the beta-glucocerebrosidase enzyme, which catalyzes the hydrolysis of glucocerebroside to ceramide and glucose.

Clinical Sensitivity - Sanger Sequencing

This test detects GBA1 causative variants in ~ 99% of patients with a clinical diagnosis of Gaucher Disease Types I, II and III (Pastores and Hughes 2015).

Testing Strategy

This test involves bidirectional Sanger sequencing of all coding exons and splice sites of the GBA1 gene. The full coding sequence of each exon plus ~10 bp of flanking DNA on either side are sequenced. We will also sequence any single exon (Test #100) or pair of exons (Test #200) in family members of patients with known mutations or to confirm research results.

Indications for Test

Gene

Official Gene Symbol	OMIM ID
GBA1	606463

Inheritance	Abbreviation
Autosomal Dominant	AD
Autosomal Recessive	AR
X-Linked	XL
Mitochondrial	MT

Diseases

Name	Inheritance	OMIM ID
Gaucher Disease, Perinatal Lethal		608013
Gaucher Disease, Type 1		230800
Gaucher Disease, Type II		230900
Gaucher Disease, Type III		231000
Gaucher Disease, Type IIIc		231005

Citations

Beutler E. et al. 1993. American Journal of Human Genetics. 52: 85-8. PubMed ID: 8434610
Beutler E. et al. 1993. Genomics. 15: 203-5. PubMed ID: 8432537
Beutler E. et al. 1993. Genomics. 15: 203-5. PubMed ID: 8432537
Brady R.O. et al. 1965. Biochemical and Biophysical Research Communications. 18: 221-5. PubMed ID: 14282020
Hatton C.E. et al. 1997. Archives of Disease in Childhood. 77: 17-22. PubMed ID: 9279145
Human Gene Mutation Database (Bio-base).
Pastores G.M., Hughes D.A. 2015. Gaucher Disease. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301446
Pastores G.M., Hughes D.A. 2015. Gaucher Disease. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301446
Tayebi N. et al. 1996. American Journal of Medical Genetics. 66: 316–9. PubMed ID: 8985494
Tayebi N. et al. 1996. American Journal of Medical Genetics. 66: 316–9. PubMed ID: 8985494
Tayebi N. et al. 1998. Pediatric Research. 43: 571-8. PubMed ID: 9585001
Tayebi N. et al. 2003. American Journal of Human Genetics. 72: 519-34. PubMed ID: 12587096
Tsuji S. et al. 1987. The New England Journal of Medicine. 316: 570-5. PubMed ID: 2880291
Zimran A. et al. 1992. Medicine. 71: 337-53. PubMed ID: 1435229

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

The test can be added to your online orders in the Summary and Pricing section.
Once the test has been added log in to myPrevent to fill out an online requisition form.
PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

A completed requisition form must accompany all specimens.
Billing information along with specimen and shipping instructions are within the requisition form.
All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

Specimen Types

Specimen Requirements and Shipping Details

ORDER OPTIONS

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STAT Testing - adds 25% to price. Tests will run concurrently unless otherwise instructed.

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