Rubinstein-Taybi syndrome (RSTS)

Rubinstein-Taybi Syndrome is a congenital disorder characterized by broad thumbs and great toes, typical facies (microcephaly, small mouth, short upper and pouting lower lip, downslanting palpebral fissures, heavy eyebrows, long lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline. Patients exhibit growth retardation, psychomotor developmental delay and cognitive disability. Ocular problems (including strabismus, cataract, glaucoma), congenital heart defects, feeding problems, hemangiomas, keloid formation, finger pads, increased risk of tumors (particularly of tissues derived from the neural crest), abnormalities of the patella, and seizures are seen in varying percentage of affected individuals.

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Differentiation between familial and de novo cases

Ordering

2923
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1, 81407x1
No
Yes
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Kalkhoven E et Al., (2003) Hum Mol Genet 12:441-450.
  2. Roelfsema JH et Al., (2005) Am J Hum Genet 76:572-580.
  3. Bentivegna A et Al., (2006) BMC Med Genet 7:77.
  4. Schorry EK et Al., (2008) Am J Med Genet 146A: 2512-2519.
  5. Gervasini C et Al., (2010) Eur J Hum Genet 18: 768-775.
  6. Sharma N et Al, (2010) J Biosci 35(2): 187-202.
  7. Thienpont B et Al., (2010) J Med Genet 47: 155-161.

Forms and Documents

Test Details

AMPD2, ANKLE2, AP4M1, ARFGEF2, ASPM, ASXL1, ATR, ATRX, BRAT1, CASK, CDK5RAP2, CDKL5, CENPE, CENPF, CENPJ, CEP135, CEP152, CIT, CREBBP, CTNNB1, DDX3X, DHCR7, DIAPH1, DYRK1A, EFTUD2, EP300, FOXG1, IER3IP1, KAT6A, KATNB1, KIF11, KIF1A, KMT2D, KNL1, MCPH1, MECP2, MED17, MYCN, NIPBL, PCNT, PNKP, RAB18, RAB3GAP1, RAB3GAP2, RBBP8, RNASEH2C, RTTN, SEPSECS, SLC25A19, SLC9A6, SNAP29, STAMBP, STIL, TCF4, TRAPPC9, TSEN54, TUBA1A, TUBB3, TUBGCP4, TUBGCP6, UBE3A, VPS13B, WDR62, ZEB2, ZNF335
  • Molecular confirmation of a clinical diagnosis
  • Establish the type of microcephaly and cause in order to provide information regarding prognosis, management and recurrence risk.
  • Testing of at-risk relatives for specific known pathogenic variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies

Ordering

689
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81404x1, 81405x2, 81406x2, 81407x1, 81302x1, 81304x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

ADNP, AHDC1, ANKRD11, ARID1A, ARID1B, ASXL1, ASXL3, ATRX, AUTS2, CACNA1A, CASK, CDKL5, CHD2, CHD7, CHD8, CLCN4, CNTNAP2, CREBBP, CSNK2A1, CTCF, CTNNB1, CTNND2, DDX3X, DHCR7, DNMT3A, DYNC1H1, DYRK1A, EFTUD2, EHMT1, EP300, FOXG1, FOXP1, GATAD2B, GNAO1, GPC3, GRIA3, GRIN1, GRIN2B, HUWE1, IL1RAPL1, IQSEC2, ITPR1, KAT6A, KAT6B, KCNB1, KDM5C, KDM6A, KIAA2022, KIF1A, KMT2A, KMT2D, MAP2K1, MBD5, MECP2, MED12, MED13L, MEF2C, MTOR, MYT1L, NALCN, NF1, NR2F1, NRXN1, NSD1, OPHN1, PACS1, PLA2G6, POGZ, PPP2R5D, PQBP1, PTCHD1, PTEN, PTPN11, PURA, RAI1, RIT1, RPS6KA3, SATB2, SCN1A, SCN2A, SCN8A, SETBP1, SETD5, SHANK3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMC1A, SOS1, STXBP1, SYNGAP1, TBL1XR1, TCF4, TRIO, TSC1, TSC2, UBE3A, USP9X, WAC, WDR45, ZC4H2, ZEB2
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with autism or intellectual disability
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies

Ordering

T395
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81302x1, 81321x1, 81323x1, 81404x2, 81405x2, 81406x2, 81407x1, 81408x2
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Recurrence risk assessment

Ordering

TG77
6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81175x1; 81185x1; 81302x1; 81321x1; 81404x1; 81406x2; 81408x2
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.