3-M Syndrome via the CCDC8 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
8823 CCDC8 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8823CCDC881479 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.

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

For Reflex to PGxome pricing click here.

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click 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

3-M syndrome is an intrauterine growth retardation disorder characterized by pre and postnatal growth retardation, a large head circumference, and a characteristic facial appearance including a prominent forehead, pointed triangular shaped face, a short upturned nose with anteverted nares, prominent mouth and lips and full eyebrows (van der Wal et al. 2001; Marik et al. 2002; Huber et al. 2005). Additional findings include a short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, slender long bones with diaphyseal constriction, tall vertebral bodies, delayed bone age and prominent heels (van der Wal et al. 2001; Huber et al. 2005; Huber et al. 2009). 3-M syndrome is currently known to be caused by pathogenic variants in the CUL7, OBSL1 and CCDC8 genes. CUL7 and OBSL1 are responsible for 77.5% and 16.3% of 3-M syndrome cases, respectively (AL-Dosari et al. 2012), while CCDC8 pathogenic variants were reported in only a few 3-M syndrome families (AL-Dosari et al. 2012; Hanson et al. 2011).

Genetics

3-M syndrome is an autosomal recessive disorder caused by pathogenic variants in the CUL7, OBSL1 and CCDC8 genes (Al-Dosari et al. 2012). The CCDC8 gene encodes the coiled-coil domain-containing protein, which partners with CUL7 and OBSL1 to form a 3-M complex to maintain microtubule and genome integrity (Yan et al. 2014). Only three unique CCDC8 pathogenic variants have been reported, and all three variants lead to premature protein termination c.84dupT (p.Lys29*); c.612dupG (p.Lys205Glufs*59) and c.803_807delAGATCinsT (p.Lys268Ilefs*40). The c.612dupG (p.Lys205Glufs*59) variant was found in four consanguineous South Asian 3-M families (Hanson et al. 2011).

Testing Strategy

This test provides full coverage of all coding exons of the CCDC8 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV PGxome

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

Indications for Test

Candidates for this test are patients with symptoms consistent with 3-M syndrome, who do not have the CUL7 and OBSL1 pathogenic variants, and the family members of patients who have known CCDC8 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CCDC8.

Gene

Official Gene Symbol OMIM ID
CCDC8 614145
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
3-M Syndrome AR 614205

Related Tests

Name
Meier-Gorlin Syndrome via the ORC4 Gene
Meier-Gorlin Syndrome via the ORC6 Gene
Primordial Dwarfism via the POC1A Gene

Citations

  • Al-Dosari M.S. et al. 2012. The Journal of Pediatrics. 161: 139-45. PubMed ID: 22325252
  • Hanson D. et al. 2011. American Journal of Human Genetics. 89: 148-53. PubMed ID: 21737058
  • Huber C. et al. 2005. Nature Genetics. 37: 1119-24. PubMed ID: 16142236
  • Huber C. et al. 2009. European Journal of Human Genetics : Ejhg. 17: 395-400. PubMed ID: 19225462
  • Marik I. et al. 2002. Journal of Paediatrics and Child Health. 38: 419-22. PubMed ID: 12174011
  • Van der Wal G. et al. 2001. Clinical Dysmorphology. 10: 241–52. PubMed ID: 11665997
  • Yan J. et al. 2014. Molecular Cell. 54: 791-804. PubMed ID: 24793695

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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