Noonan-Like Syndrome with Loose Anagen Hair via the SHOC2 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
7209 SHOC2 81405 81405,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7209SHOC281405 81405, 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

Noonan-like syndrome with loose anagen hair (OMIM 607721) is a rare disorder characterized by an association of Noonan syndrome and loose anagen hair. The most common clinical features are reduced growth, cognitive deficits, hyperactive behavior, and hair abnormalities consisting of easily pluckable, slow-growing hair (Mazzanti et al. Am J Med Genet 118A:279-286, 2003). Trichogram findings include abnormally shaped anagen bulbs lacking root sheaths (Tosti et al. Dermatologica 182:247-249, 1991). Additional features suggestive of Costello syndrome (CS) or cardio-facio-cutaneous syndrome (CFCS) have been reported. These include darkly pigmented skin with eczema or ichthyosis, hypernasal voice, and cardiac anomalies including dysplasia of the mitral valve and septal defects (Cordeddu et al. Nat Genet 41:1022-1026, 2009).

Genetics

A missense variant in the SHOC2 gene, c.4A>G (p.Ser2Gly), causes Noonan-like syndrome with anagen hair (Cordeddu et al. Nat Genet 41:1022-1026, 2009). Several patients with this SHOC2 variant presented as newborns or young infants with clinical features suggestive of CS or CFCS. Recently, this variant was reported in a premature infant with Noonan syndrome presenting with distress and fetal onset of rapidly progressive and fatal hypertrophic cardiomyopathy, expanding the clinical phenotype resulting from the c.4A>G variant (Hoban et al. Am J Med Genet A 158A(6):1411-1413, 2012). The c.4A>G variant was found in ~ 8% of patients with NS or related disorders without variants in PTPN11, SOS1, RAF1, KRAS, HRAS, BRAF, MAP2K1, or MAP2K2 (Komatsuzaki et al. J Hum Genet 55:801-809, 2010). The c.4A>G variant occurred de novo in all reported patients for which parental testing was performed. The SHOC2 protein positively regulates the RASMAPK signaling pathway.

Clinical Sensitivity - Sequencing with CNV PG-Select

Unknown at this time.

Testing Strategy

This test provides full coverage of all coding exons of the SHOC2 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Patients with symptoms suggestive of Noonan-like syndrome with loose anagen hair and patients with Noonan syndrome who are negative for variants in the genes that are commonly mutated in this disorder.

Gene

Official Gene Symbol OMIM ID
SHOC2 602775
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Noonan-Like Syndrome With Loose Anagen Hair AD 607721

Related Tests

Name
Comprehensive Cardiology Panel
Fetal Concerns Panel

Citations

  • Cordeddu, V., et.al. (2009). "Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair." Nat Genet 41(9): 1022-6. PubMed ID: 19684605
  • Hoban et al. (2006). Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. Am J Med Genet A 158A(6):1411-3. PubMed ID: 22528146
  • Komatsuzaki et al. (2010). Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. J Hum Genet 55(12):801-9. PubMed ID: 20882035
  • Mazzanti, L., et.al. (2003). "Noonan-like syndrome with loose anagen hair: a new syndrome?." Am J Med Genet A 118A(3): 279-86. PubMed ID: 12673660
  • Tosti, A., et.al. (1991). "Loose anagen hair in a child with Noonan's syndrome." Dermatologica 182(4): 247-9. PubMed ID: 1884862

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.
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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

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