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Fabry Disease via the GLA Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
GLA 81405 81405,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7681GLA81405 81405,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

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

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 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.


Genetic Counselors


  • Jana Paderova, PhD

Clinical Features and Genetics

Clinical Features

Fabry disease (OMIM 301500) is a lysosomal storage disorder due to deficiency in the lysosomal enzyme glycohydrolase alpha-galactosidase A (α-GAL A) (Brady et al. N Engl J Med 276:1163-1167, 1967). The enzymatic deficiency results in the progressive accumulation of globotriaosylceramide and related glycosphingolipids in the vascular endothelium, causing the disease manifestations. Fabry disease is inherited as an X-linked recessive trait, and female carriers may develop the disease. It is a clinically heterogeneous disease even among affected members of the same family (Banikazemi et al. 2012).

In male patients with Fabry disease, two forms are recognized: the classic and atypical forms. The classic form is characterized by onset during the first two decades of life and features including corneal and lenticular opacities, angiokeratoma (skin lesions), acroparesthesias (excruciating pain in the extremities), and hypohidrosis (decreased ability to sweat). In the atypical form, symptoms begin later in life and include left ventricular hypertrophy, arrhythmias, or cardiomyopathy. The classical features are not present in cases with the atypical form of the disease.

In female heterozygotes, clinical manifestations are largely determined by random X-inactivation (Dobrovolny et al. J Mol Med 83:647-654, 2005). Female heterozygotes may be asymptomatic throughout a normal life span or affected with variable severity. Fabry disease occurs in diverse ethnic groups throughout the world, with an estimate incidence of 1 in 60,000 males (Meikle et al. JAMA 281:249-254, 1999). In untreated patients, death results from renal failure, heart failure, or myocardial infarction.


Variants in the GLA gene are responsible for the α-GAL A enzyme deficiency and subsequent development of Fabry disease (Bernstein et al. J Clin Invest 83:1390-1399, 1989). More than 500 variants, distributed along the entire coding region of the gene have been detected in patients with Fabry disease. Most variants are unique to single families and include missense, nonsense, splicing, and small insertions/deletion variants. Partial or whole deletions of the GLA gene accounted for less than 0.05 % of all Fabry disease cases, and complex rearrangements have been detected in only three patients.

Clinical Sensitivity - Sequencing with CNV PG-Select

This test detects GLA variants in nearly 100% of males with Fabry disease (Mehta and Hughes, GeneReviews, 2008). The sensitivity of this test in female heterozygotes is currently not known.

Testing Strategy

This test provides full coverage of all coding exons of the GLA gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Male patients with Fabry disease and potentially heterozygous females are candidates.


Official Gene Symbol OMIM ID
GLA 300644
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Fabry's Disease XL 301500

Related Test

Comprehensive Cardiology Panel


  • Atul Mehta, Derralynn A Hughes (2008). "Fabry Disease." PubMed ID: 20301469
  • Banikazemi et al. Genetics of Fabry Disease.
  • Bernstein, H. S., et.al. (1989). "Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene." J Clin Invest 83(4): 1390-9. PubMed ID: 2539398
  • Brady, R. O., et.al. (1967). "Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency." N Engl J Med 276(21): 1163-7. PubMed ID: 6023233
  • Dobrovolny, R., et.al. (2005). "Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population." J Mol Med 83(8): 647-54. PubMed ID: 15806320
  • Meikle, P. J. et.al. (1999). "Prevalence of lysosomal storage disorders." JAMA 281(3): 249-254. PubMed ID: 9918480


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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

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2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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