Oculocutaneous Albinism Type 6 (OCAVI) via the SLC24A5 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
4239 SLC24A5 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4239SLC24A581479 81479(x2) $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.

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

  • Dana Talsness, PhD

Clinical Features and Genetics

Clinical Features

Oculocutaneous albinism (OCA) is an inherited disorder caused by deficiency in melanin synthesis that results in hypopigmentation of the skin, eyes, and hair. If the phenotype is mainly restricted to the eyes and the optic system, it is referred to as ocular albinism (OA) (Gargiulo et al. 2011). The reduction or complete absence of melanin pigment in the developing eye leads to foveal hypoplasia and misrouting of the optic nerves in the affected individuals (Oetting and King 1999). The eye and optic system abnormalities that are common to all types of albinism are nystagmus, photophobia, strabismus, moderate to severe impairment of visual acuity, reduced iris pigment with iris translucency, reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination, refractive errors and altered visual evoked potentials (VEP). The degree of skin and hair hypopigmentation varies with the type of OCA, but the ocular phenotype does not change (Lewis 2012). To date, four types of non-syndromic OCA (type I-IV, based on gene involved) have been described. Their prevalence varies among different populations (Lewis 2013). Recently, exome Sequencing identified SLC24A5 as a candidate gene for non-syndromic OCA (named subsequent to the OCAV locus, OCAVI) (Wei et al. 2013).

Genetics

Mutations in SLC24A5 (solute carrier family 24, member 5) cause recessive oculocutaneous albinism type VI. SLC24A5 encoded protein is a member of the potassium-dependent sodium-calcium exchanger family denoted NCKX5 (Ginger et al. 2007). This protein is thought to be required for melanosme maturation or for melanin synthesis in mature melanosomes. In skin and hair, if melanosomes are immature, it is likely less melanin pigment is synthesized in comparison to mature melanosomes. Premature melanosomes that were in found in epidermal melanocytes of OCAIV patients supports this hypothesis (Wei et al. 2013). So far, about 10 causative sequence variations (missense, nonsense, splicing, small insertions and deletions) have been reported in this gene (Human Gene Mutation Database). A homozygous 4-nucleotide novel insertion in SLC24A5 detected in a patient showed extreme cutaneous hypopigmentation (Mondal et al. 2012). Also, finding mutations in SLC24A5 in five unrelated families supports the idea that screening SLC24A5 gene is important in OCA patients (Morice-Picard et al. 2014).

Clinical Sensitivity - Sequencing with CNV PGxome

A molecular screening in 399 patients with non-syndromic OCA identified SLC24A5 mutations in 1.2% of the patients (Morice-Picard et al. 2014).

Testing Strategy

This test provides full coverage of all coding exons of the SLC24A5 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

All patients with symptoms suggestive of Oculocutaneous albinism are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SLC24A5.

Gene

Official Gene Symbol OMIM ID
SLC24A5 609802
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Skin/Hair/Eye Pigmentation, Variation In, 4 AR 113750

Citations

  • Gargiulo A, Testa F, Rossi S, Iorio V Di, Fecarotta S, Berardinis T de, Iovine A, Magli A, Signorini S, Fazzi E. 2011. Molecular and clinical characterization of albinism in a large cohort of Italian patients. Investigative Ophthalmology & Visual Science 52: 1281–1289. PubMed ID: 20861488
  • Ginger RS, Askew SE, Ogborne RM, Wilson S, Ferdinando D, Dadd T, Smith AM, Kazi S, Szerencsei RT, Winkfein RJ, Schnetkamp PPM, Green MR. 2007. SLC24A5 Encodes a trans-Golgi Network Protein with Potassium-dependent Sodium-Calcium Exchange Activity That Regulates Human Epidermal Melanogenesis. Journal of Biological Chemistry 283: 5486–5495. PubMed ID: 18166528
  • Human Gene Mutation Database (Bio-base).
  • Lewis RA. 2012. Oculocutaneous Albinism Type 2. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301410
  • Lewis RA. 2013. Oculocutaneous Albinism Type 1. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301345
  • Mondal M, Sengupta M, Samanta S, Sil A, Ray K. 2012. Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings. Gene 511: 470–474. PubMed ID: 23010199
  • Morice-Picard F, Lasseaux E, François S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B. 2014. SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism. J Invest Dermatol 134: 568–571. PubMed ID: 23985994
  • Oetting WS, King RA. 1999. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum. Mutat. 13: 99–115. PubMed ID: 10094567
  • Wei A-H, Zang D-J, Zhang Z, Liu X-Z, He X, Yang L, Wang Y, Zhou Z-Y, Zhang M-R, Dai L-L, Yang X-M, Li W. 2013. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. J. Invest. Dermatol. 133: 1834–1840. PubMed ID: 23364476

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

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
×