DNA icon

Alpha-Mannosidosis via the MAN2B1 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
7901 MAN2B1 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7901MAN2B181479 81479,81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

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

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

  • McKenna Kyriss, PhD

Clinical Features and Genetics

Clinical Features

Alpha-mannosidosis (OMIM# 248500) is an inheritable lysosomal storage disorder characterized by facial and skeletal abnormalities, hearing impairment, immune deficiency, and intellectual disability (Malm et al. Orphanet J Rare Dis 3:21, 2008; Malm et al. GeneReviews, 2001). Neurological abnormalities include gradual impairment of mental functions and speech, motor function disturbances and periods of psychiatric symptoms. Minor features include ocular changes and hepatosplenomegaly. After a normal birth, clinical symptoms develop progressively and the severity is markedly variable from early death to an asymptomatic form in adulthood. Diagnosis of the disease is made by measuring acid alpha-mannosidase activity in leukocytes or other nucleated cells.

Genetics

Alpha-mannosidosis is an autosomal recessive disorder caused by deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene (Berg et al. Am J Hum Genet 64:77-88, 1999). Lysosomal alpha-mannosidase is required for the catabolism of N-linked carbohydrates released during glycoprotein turnover in the lysosomes. Genetic aberrations throughout the MAN2B1 gene include missense, nonsense, splicing mutations and small deletion/insertions. Large deletions within the MAN2B1 gene have also been reported but are relatively uncommon (Human Gene Mutation Database). Most mutations are private. The missense mutation c.2248C>T (p.Arg750Trp) in exon 18, accounting for more than 30% of pathogenic alleles, is most frequent among Alpha-mannosidosis patients in European populations (Berg et al. Am J Hum Genet 64:77-88, 1999; Malm et al., 2008).

Clinical Sensitivity - Sequencing with CNV PG-Select

DNA sequencing can detect 98% of disease-causing MAN2B1 mutations in patients who have been subjected to biochemical pre-screening (Nilssen et al. Eur J Hum Genet 19(7), 2011).

Testing Strategy

This test provides full coverage of all coding exons of the MAN2B1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with alpha-mannosidosis. Testing is also indicated for family members of patients who have known MAN2B1 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MAN2B1.

Gene

Official Gene Symbol OMIM ID
MAN2B1 609458
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Deficiency Of Alpha-Mannosidase AR 248500

Citations

  • Berg, T. et al. (1999). “Spectrum of mutations in alpha-mannosidosis.” Am J Hum Genet 64(1):77-88. PubMed ID: 9915946
  • Human Gene Mutation Database (Bio-base).
  • Malm, D. et al. (2001). “Alpha-mannosidosis.” GeneReviews. PubMed ID: 20301570
  • Malm, D. et al. (2008). “Alpha-mannosidosis.” Orphanet J Rare Dis 3:21. PubMed ID: 18651971
  • Nilssen, Ø. et al. (2011). “Clinical utility gene card for: α-mannosidosis.” Eur J Hum Genet 19(7). PubMed ID: 21368911

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

loading Loading... ×

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: $
×
Copy Text to Clipboard
×