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 Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 7209 | SHOC2 | 81405 | 81405,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
Turnaround Time
3 weeks on average for standard orders or 2 weeks 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.
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.
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 Test
| Name |
|---|
| Comprehensive Cardiology 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.
- 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
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
Loading...
×
ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.