ADNP, AHDC1, ANKRD11, ARID1A, ARID1B, ASXL1, ASXL3, ATRX, AUTS2, CACNA1A, CACNA1E, CASK, CDKL5, CHD2, CHD7, CHD8, CLCN4, CREBBP, CSNK2A1, CTCF, CTNNB1, 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 (NEXMIF), KIF1A, KMT2A (MLL), 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
- Intellectual disability
- Kabuki syndrome (KS)
- Rubinstein-Taybi syndrome (RSTS)
- Autism spectrum disorders
- 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
- Next-Gen Sequencing
- Deletion/Duplication Analysis
The American College of Medical Genetics and Genomics (ACMG) strongly supports exome or genome sequencing as a first-tier test for patients with developmental delay, intellectual disabilities and/or congenital anomalies.
- Genetics in Medicine (2021) 23:2029–2037; https://doi.org/10.1038/s41436-021-01242-6
81404x2, 81405x3, 81406x4, 81407x1, 81408x1, 81175x1, 81185x1, 81302x1, 81304x1, 81321x1, 81323x1, 81479x1
*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.
**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.