Primordial Dwarfism via the POC1A 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
8395 POC1A 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8395POC1A81479 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

  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Primordial dwarfism (PD) is characterized by severe intrauterine and postnatal growth retardation that includes Seckel Syndrome, Silver-Russell Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism types I/III, II and Meier-Gorlin Syndrome (Khetarpal et al. 2016). POC1A-related Primordial Dwarfism is called SOFT syndrome, an abbreviation for short stature, onychodysplasia, facial dysmorphism, and hypotrichosis. The major clinical features include short and thick long bones, short femoral neck, and hypoplastic pelvis and sacrum, long, triangular face with prominent nose and small ears, along with sparse hair, and nail hypoplasia (Shaheen et al. 2012; Koparir et al. 2015). Extreme dyslipidaemic insulin resistance and fatty liver were also reported in one patient affected with POC1A-related Primordial Dwarfism (Chen et al. 2015).

Genetics

POC1A-related primordial dwarfism is an autosomal recessive disorder. POC1A encodes a centriolar protein which plays multiple key roles in centriole biogenesis (Keller et al. 2009). Abnormal mitotic spindles and centrosome amplification were found in patients’ fibroblasts carrying POC1A pathogenic variants (Shaheen et al. 2012; Koparir et al. 2015; Chen et al. 2015). To date, only 4 unique homozygous pathogenic variants were reported in 7 consanguineous PD families. The c.241C>T, p.Arg81* variant was found in three Saudi families; the c.512T>C, Leu171Pro was reported in two Arab families; and the c.358A>G, Thr120Ala and c.1048delC, p.Gln350Argfs*4 were found in one family, respectively (Sarig et al. 2012; Shaheen et al. 2012; Koparir et al. 2015 and Chen et al. 2015; Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

The mutation detection rate by sequencing should be high, because the four known unique pathogenic variants are missense, nonsense and a small deletion. However, due to limited publications, clinical sensitivity is difficult to predict.

Testing Strategy

This test provides full coverage of all coding exons of the POC1A 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 primordial dwarfism and the family members of patients who have known POC1A mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in POC1A.

Gene

Official Gene Symbol OMIM ID
POC1A 614783
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Name
3-M Syndrome via the CCDC8 Gene
Meier-Gorlin Syndrome via the ORC4 Gene
Meier-Gorlin Syndrome via the ORC6 Gene

Citations

  • Chen J.H. et al. 2015. Journal of Molecular Endocrinology. 55: 147-58. PubMed ID: 26336158
  • Human Gene Mutation Database (Bio-base).
  • Keller L.C. et al. 2009. Molecular Biology of the Cell. 20: 1150-66. PubMed ID: 19109428
  • Khetarpal P. et al. 2016. Molecular Genetics and Genomics : 291:1–15 PubMed ID: 26323792
  • Koparir A. et al. 2015. Human Molecular Genetics. 24: 5378-87 PubMed ID: 26162852
  • Koparir A. et al. 2015. Human Molecular Genetics. 24: 5378-87.
  • Sarig O. et al. 2012. American Journal of Human Genetics. 91: 337-42. PubMed ID: 22840363
  • Shaheen R. et al. 2012. American Journal of Human Genetics. 91: 330-6 PubMed ID: 22840364
  • Shaheen R. et al. 2012. American Journal of Human Genetics. 91: 330-6.

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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