Aarskog-Scott Syndrome via the FGD1 Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 9887 | FGD1 | 81479 | 81479,81479 | $990 | 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.
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 platform).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).
The Sanger Sequencing method for this test is NY State approved.
For Sanger Sequencing click here.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
Aarskog-Scott syndrome, also known as faciogenital dysplasia, is characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly. There is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (Orrico et al. 2010).
Genetics
Aarskog-Scott syndrome is an X-linked disorder caused by variants in the FGD1 gene. FGD1 protein (also known as FYVE, RhoGEF, and PH domain containing protein 1) has strong homology to RAS-like RHO/RAC guanine nucleotide exchange factors (GEFs) and contains a cysteine-rich zinc finger-like region and 2 potential Src homology-3 (SH3)-binding sites (Hou et al. 2003). This protein is proposed to play an important role in regulating cell shape (Hou et al. 2003). The majority of variants in FGD1 are missense, nonsense, and frameshift variants. There is no apparent genotype/phenotype correlation in studied patient cohorts (Orrico et al. 2010).
Clinical Sensitivity - Sequencing with CNV PGxome
This test is predicted to detect disease variants in around 20% of individuals with Aarskog-Scott syndrome (Schwartz et al. 2000; Orrico et al. 2004; Orrico et al. 2010).
Testing Strategy
This test provides full coverage of all coding exons of the FGD1 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 clinical features consistent with Aarskog-Scott syndrome and family members of patients who have a known FGD1 variant.
Candidates for this test are patients with clinical features consistent with Aarskog-Scott syndrome and family members of patients who have a known FGD1 variant.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| FGD1 | 300546 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Aarskog Syndrome | XL | 305400 |
Citations
- Hou P, Estrada L, Kinley AW, Parsons JT, Vojtek AB, Gorski JL. 2003. Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape. Human Molecular Genetics 12: 1981–1993. PubMed ID: 12913069
- Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns J-P, Crushell E, Rinaldi MM, Medeira A, Sorrentino V. 2003. Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. European Journal of Human Genetics 12: 16–23. PubMed ID: 14560308
- Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri SM, Hertz JM, Jacquemont S, Taurisano R, Arroyo Carrera I, Tarantino E, Devriendt K, Melis D, Thelle T, Meinhardt U, Sorrentino V. 2010. Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene. American Journal of Medical Genetics Part A 152A: 313–318. PubMed ID: 20082460
- Schwartz CE, Gillessen-Kaesbach G, May M, Cappa M, Gorski J, Steindl K, Neri G. 2000. Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. Eur. J. Hum. Genet. 8: 869–874. PubMed ID: 11093277
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
PGxome (Exome) Sequencing Panel
PGnome (Genome) Sequencing Panel
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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.