Kabuki syndrome (KS)

KS is a multiple congenital anomaly syndrome characterized by distinctive facial features (reminiscent of the actors performing Japanese Kabuki theatre) and mild-moderate intellectual disability. Additionally, patients can have congenital heart defects, urogenital abnormalities, skeletal abnormalities, and post-natal growth retardation.
KS is caused by mutations in the KMT2D gene. GeneDx conducts bi-directional sequence analysis of the entire coding region (exons 1-54) and splice sites of the KMT2D gene. Mutation-specific testing in family members and prenatal diagnosis in at-risk pregnancies is available once a mutation has been identified.

Tests Available

Forms and Documents

Test Details

KDM6A, KMT2D
  • Molecular confirmation of clinical diagnosis
  • Development of appropriate evaluation and management plan
  • 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
  • Genetic counseling and recurrence risk assessmemt

Ordering

TB04
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81479x1
No
Yes
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 783.43 Short stature, Growth failure, Growth retardation, Lack of growth, Physical retardation
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
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. Wessels et al., (2002) Clinical Dysmorphol 11(2):95–102.
  2. Paulussen et al., (2010) Hum Mutat 32:E2018-E2025.
  3. Ng et al., (2010) Nat Genet 42(9):790-793.
  4. Li et al., (2011) Hum Genet 130(6):715-724.
  5. Lederer et al., (2012) Am J Hum Genet 90:119-124.
  6. Hannibal et al., (2011) Am J Med Genet A 155(7): 1511-1516.

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

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

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.