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Farber Lipogranulomatosis via the ASAH1 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
8291 ASAH1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8291ASAH181479 81479,81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 13 days 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

Geneticist

  • Jana Paderova, PhD

Clinical Features and Genetics

Clinical Features

Farber lipogranulomatosis or Farber disease (OMIM 228000) is a rare lysosomal storage disorder due to deficiency in the lysosomal enzyme acid ceramidase (Farber, AMA Am J Dis Child 84:499-500, 1952; Sugita et al. Science 178:1100-1102, 1972). The enzymatic deficiency results in the accumulation of ceramide and ganglioside in various tissues including the skin, kidney, and brain. Symptoms usually begin during infancy and death occurs within the first years of life. Patients with milder forms, later onset, and longer life span have been reported. Farber disease is characterized by a hoarse cry, difficulty in feeding, and subcutaneous nodules (lipogranuloma), usually near the interphalangeal, wrist, elbow, and ankle joints. These manifestations are painful and lead to progressive joint deformations. Additional features may include variable degrees of nervous system, lung, heart, lymph node, spleen, and liver impairment (Moser et al. In The Metabolic and Molecular Bases of Inherited Disease:3573-3585, 2001; Edited by Scriver et al.).

Genetics

Farber disease is inherited in an autosomal recessive manner. Variants in the ASAH1 gene are responsible for the acid ceramidase deficiency and subsequent development of the disease (Koch et al. J Biol Chem 271:33110-33115, 1996). To date, about 20 variants, distributed along the entire coding region of the gene, have been detected in patients with Farber disease from various populations. Nearly all reported variants were missense, although a frameshift and two splicing variants were also reported (http://www.hgmd.org/). Most variants are private (Muramatsu et al. J Inherit Metab Dis 25:585-592, 2002). In mice, deletion of the entire gene leads to embryonic lethality (Li et al. Genomics 79:218-224, 2002).

The ASAH1 gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved post-translationally to form the mature enzyme. The ceramidase enzyme catalyzes the degradation of ceramide into sphingosine and fatty acid.

Clinical Sensitivity - Sequencing with CNV PGxome

Unknown at this time.

Testing Strategy

This test provides full coverage of all coding exons of the ASAH1 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Patients with clinical features of Farber disease and their biological relatives are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ASAH1.

Gene

Official Gene Symbol OMIM ID
ASAH1 613468
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Farber's Lipogranulomatosis AR 228000

Citations

  • Farber, S. (1952). "A lipid metabolic disorder: disseminated lipogranulomatosis; a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schuller-Christian disease." AMA Am J Dis Child 84(4): 499-500. PubMed ID: 12975849
  • Koch, J., et.al. (1996). "Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease." J Biol Chem 271(51): 33110-5. PubMed ID: 8955159
  • Li, C. M., et.al. (2002). "Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes." Genomics 79(2): 218-24. PubMed ID: 11829492
  • Moser, H. W., et.al. (2001). "Acid Ceramidase Deficiency: Farber Lipogranulomatosis.." 3: 3573-3585.
  • Muramatsu, T., et.al. (2002). "Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease." J Inherit Metab Dis 25(7): 585-92. PubMed ID: 12638942
  • Sugita, M., et.al. (1972). "Ceramidase deficiency in Farber's disease (lipogranulomatosis)." Science 178(65): 1100-2. PubMed ID: 4678225

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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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