North Carolina Type Macular Dystrophy via the PRDM13 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
15287 PRDM13 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15287PRDM1381479 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.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

North Carolina Macular Dystrophy (OMIM # 136550) is clinically characterized as decreased visual acuity, central scotomata, and drusen-like deposits in the central macular region with variable age of onset, from first decade to fourth or fifth decade of life (Small et al. 2016. PubMed ID: 26507665).

Genetics

North Carolina Macular Dystrophy (NCMD) is a rare autosomal dominant disorder. PRDM13 is a retinal transcription factor solely expressed in the neural retina and is an important regulator of human macular development (Small et al. 2016. PubMed ID: 26507665). Five variants in the upstream region of the PRDM13 gene (a DNAse hypersensitivity site) were reported to segregate in the 102 affected and 39 unaffected members of the 12 North Carolina macular dystrophy (NCMD) families (Small et al. 2016. PubMed ID: 26507665). Additionally, a 123kb tandem duplication containing the entire PRDM13 gene with some additional upstream and downstream regions was also reported in one NCMD family (Small et al. 2016. PubMed ID: 26507665).

Clinical Sensitivity - Sequencing with CNV PG-Select

Due to the genetic heterogeneity and phenotypic overlap, determining the clinical sensitivity is difficult. Analytical sensitivity should be high because all pathogenic variants reported are detectable by sequencing with CNV detection. Limited number of cases suggest that this gene is not a common cause of disease.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This test provides full coverage of all coding exons of the PRDM13 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.

We will also test for the noncoding region variants that are documented causative in this gene.

 

Indications for Test

All patients with symptoms suggestive of North Carolina Macular Dystrophy are candidates.

Gene

Official Gene Symbol OMIM ID
PRDM13 616741
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID

Citations

  • Small et al. 2016. PubMed ID: 26507665

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.

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

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ORDER OPTIONS

View Ordering Instructions

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.

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