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Histiocytosis-Lymphadenopathy Plus Syndrome via the SLC29A3 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
11001 SLC29A3 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11001SLC29A381479 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.

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

  • Siwu Peng, PhD

Clinical Features and Genetics

Clinical Features

Histocytosis-Lymphadenopathy Plus syndrome, also known as SLC29A3 spectrum disorder, comprises four disorders that were initially thought to be distinct entities, but in fact show extensive phenotypic overlap. The four disorders include Faisalabad histiocytosis (FHC), H syndrome, sinus histiocytosis with massive lymphadenopathy (aka familial Rosai-Dorfman disease), and pigmented hypertrichosis and insulin-dependent diabetes (PHID). Histiocytosis is characterized by an excessive number of histiocytes that phagocytose other cells and process antigens. While histiocytosis is a common feature among most patients with SLC29A3-related disorders, other features are variable among patients and include generalized lymphadenopathy, joint swelling, fever, leukocytosis, polyclonal hypergammaglobulinemia, hyperpigmentation, hypertrichosis, heart anomalies, hepatosplenomegaly, hypogonadism, hearing loss, and antibody-negative insulin-dependent diabetes mellitus (Morgan et al. 2010. PubMed ID: 20140240; Kismet et al. 2005. PubMed ID: 16118898; Cliffe et al. 2009. PubMed ID: 19336477; Bolze et al. 2012. PubMed ID: 22238637).

Genetics

Pathogenic variants in the SLC29A3 (aka ENT3) gene are associated with rare syndromic forms of autosomal recessive familial histiocytosis. Other genes associated with familial histiocytosis disorders include PRF1, UNC13D, STX11, STXBP2, and the X-linked genes XIAP and SH2D1A. The SLC29A3 gene encodes a pH-dependent, nucleoside transporter (ENT3) that localizes to late endosome/lysosomal membranes and to mitochondria (Baldwin et al. 2005. PubMed ID: 15701636; Govindarajan et al. 2009. PubMed ID: 19164483). ENT3 is produced in many tissues including the placenta, uterus, ovary, spleen, lymph nodes, and nervous system. Pathogenic variants include missense variants and protein truncating variants such as splice site variants and small frameshift deletions and affect protein expression levels, localization, and transporter function (Molho-Pessach. 2008. PubMed ID: 18940313; Kang. 2010. PubMed ID: 20595384). Large deletions and duplications involving SLC29A3 have not been reported in patients. Two reported pathogenic variants, p.Gly427Ser and p.Gly437Arg, are found at frequencies of ~1% among Arab populations (Molho-Pessach. 2008. PubMed ID: 18940313).

Clinical Sensitivity - Sequencing with CNV PGxome

SLC29A3 spectrum disorders are rare and are found primarily in patients of Arab descent. For example, fewer than 100 patients with H syndrome have been reported in the literature (Bloom et al. 2017. PubMed ID: 29041934).

Testing Strategy

This test provides full coverage of all coding exons of the SLC29A3 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 familial or syndromic forms of histiocytosis and lymphadenopathy that include other clinical characteristics such as hypergammaglobulinemia, hyperpigmentation, hypertrichosis, hepatosplenomegaly, hypogonadism, hearing loss, and antibody-negative insulin-dependent diabetes mellitus. Patients who have tested negative for other forms of familial histiocytosis or primary immunodeficiencies. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SLC29A3.

Gene

Official Gene Symbol OMIM ID
SLC29A3 612373
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Histiocytosis-lymphadenopathy plus syndrome AR 602782

Citations

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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