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KLICK Syndrome via the POMP 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
8563 POMP 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8563POMP81479 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

  • Stela Berisha, PhD, FACMG

Clinical Features and Genetics

Clinical Features

KLICK syndrome is a rare skin disorder characterized by Keratosis Linearis with Ichthyosis Congenita and sclerosing Keratoderma. The major features include congenital ichthyosis and palmoplantar keratoderma hyperkeratosis (Vahlquist et al. 1997).

Genetics

Pathogenic variants in the POMP gene cause autosomal recessive KLICK syndrome. POMP (proteasome maturation protein) is a key component for 20S proteasome formation. To date, one small homozygous deletion (c.-95delC) in the pre-coding region of the POMP gene was found in 12 KLICK syndrome patients from 8 unrelated European families (Dahlqvist et al. 2010). Also, a small heterozygous duplication (c.340_344dupTTTGA, p.Glu115Aspfs*20) was found in one patient affected with CANDLE disease, an autosomal dominant immune-dysregulatory disease characterized by chronic atypical neutrophilic dermatosis with lipodystrophy and elevated Temperature (Brehm et al. 2015).

Clinical Sensitivity - Sequencing with CNV PGxome

A recurrent pathogenic variant in the POMP gene was found in 12 KLICK syndrome patients from 8 unrelated European families (Dahlqvist et al. 2010). However, due to limited publications, the clinical sensitivity is not firmly established.

Testing Strategy

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

Candidates for this test are patients with symptoms consistent with autosomal recessive KLICK syndrome and the family members of patients who have known POMP mutations. Patients with CANDLE disease are also candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in POMP.

Gene

Official Gene Symbol OMIM ID
POMP 613386
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
Congenital Ichthyosis and Related Disorders Panel

Citations

  • Brehm A. et al. 2015. The Journal of Clinical Investigation. 125: 4196-211. PubMed ID: 26524591
  • Dahlqvist J. et al. 2010. American Journal of Human Genetics. 86: 596-603. PubMed ID: 20226437
  • Vahlquist A. et al. 1997. Acta Dermato-venereologica. 77: 225-7. PubMed ID: 9188877

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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