3-M Syndrome via the CUL7 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
11221 CUL7 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11221CUL781479 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. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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 (OMIM 273750) 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. Clin Dysmorphol 10:241-252, 2001; Marik et al. J Paediatr Child Health 38:419-422, 2002; Huber et al. Nat Genet 37:1119-1124, 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. Eur J Hum Genet 17:395-400, 2009).

Genetics

3-M syndrome is an autosomal recessive disorder caused by variants in the CUL7 gene (Huber et al. 2005). The CUL7 gene encodes cullin-7 protein, which plays a scaffold role in assembling an E3 ubiquitin ligase complex. This complex contains both the heterodimer of Skp1 and Fbx29 (also known as Fbw8) and the ROC1 RING-finger protein (Huber et al. 2005). A mix of missense, nonsense, frameshift, splicing, deletions and duplications variants have been reported in CUL7 (Huber et al. 2005; Huber et al. 2009).

Testing Strategy

This test provides full coverage of all coding exons of the CUL7 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

The prevalence of the CUL7 variants is currently unknown. However, CUL7 variants account for ~84% of the 3-M syndrome reported cases (Huber et al. 2009).

Indications for Test

Candidates for this test are patients with symptoms consistent with 3-M syndrome and family members of patients who have known CUL7 variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CUL7.

Gene

Official Gene Symbol OMIM ID
CUL7 609577
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Three M Syndrome 1 AR 273750

Citations

  • Huber, C., et.al. (2005). "Identification of mutations in CUL7 in 3-M syndrome." Nat Genet 37(10): 1119-24. PubMed ID: 16142236
  • Huber, C., et.al. (2009). "A large-scale mutation search reveals genetic heterogeneity in 3M syndrome." Eur J Hum Genet 17(3): 395-400. PubMed ID: 19225462
  • Marik, I., et.al. (2002). "3-M syndrome in two sisters." J Paediatr Child Health 38(4): 419-22. PubMed ID: 12174011
  • van der Wal, G., et.al. (2001). "3-M syndrome: description of six new patients with review of the literature." Clin Dysmorphol 10(4): 241-52. PubMed ID: 11665997

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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