Genomic Unity® Intellectual Disability Analysis
Intellectual disability is a neurodevelopmental disorder defined by limitations in intellectual functioning and adaptive behavior, with an onset before 18 years of age.
Genomic Unity® Intellectual Disability Analysis is an effective test for the genetic cause of intellectual disability in patients with the following presentations:
Syndromic intellectual disability - intellectual disability presents along with other clinical features such as distinct facial features, hypotonia, seizures, congenital contractures, ataxia and many more
Non-syndromic intellectual disability - intellectual disability presents as the only clinical feature
It is an effective test for X-linked as well as autosomal causes of intellectual disability.
Order this test when the patient presents with intellectual disability, with or without additional clinical symptoms, and you'd like the option to reflex up to Genomic Unity® Exome Plus Analysis.
Sequencing analysis of X-linked and autosomal intellectual disability associated genes
Del/dup analysis of X-linked and autosomal intellectual disability associated genes
Early-onset intellectual disability disorder STR analysis: AFF2, AFF3, DIP2B, FMR1
Reflex to Genomic Unity® Exome Plus Analysis
ABCD1, ACSL4, ADNP, AFF2, AFF3, AGA, AHDC1, AIFM1, ALG13, AMMECR1, ANKRD11, AP1S2, AP4B1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARSE, ARX, ASXL1, ASXL3, ATP6AP2, ATP7A, ATRX, AUTS2, BCAP31, BCOR, BCORL1, BDNF, BRWD3, CA8, CACNA1A, CASK, CC2D1A, CCDC22, CDKL5, CHD2, CHD7, CHD8, CLCN4, CNKSR2, CNTNAP2, CREBBP, CSNK2A1, CTCF, CTNNB1, CTNND2, CUL4B, DCX, DDX3X, DHCR7, DIP2B, DKC1, DLG3, DMD, DNM1, DNMT3A, DYNC1H1, DYRK1A, EBP, EFTUD2, EHMT1, EIF2S3, EP300, EZH2, FANCB, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, FRMPD4, FTCD, FTSJ1, GAMT, GATAD2B, GATM, GDI1, GK, GNAO1, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, HAL, HCCS, HCFC1, HCN1, HDAC6, HDAC8, HIVEP2, HMGB3, HNRNPH2, HNRNPU, HOXA1, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IKBKG, IL1RAPL1, IQSEC2, ITPR1, KANSL1, KAT6A, KCNB1, KCNJ10, KDM5C, KDM6A, KIF1A, KIF4A, KLF8, KLHL15, KMT2A, KMT2D, L1CAM, LAMP2, LAS1L, LINS1, MAGT1, MAN1B1, MAOA, MAP2K1, MBD5, MBTPS2, MECP2, MED12, MED13L, MED23, MEF2C, MID1, MID2, MTM1, MTOR, MYT1L, NAA10, NALCN, NDP, NDUFA1, NEXMIF, NF1, NHS, NIPBL, NLGN3, NLGN4X, NONO, NR2F1, NRXN1, NSD1, NSDHL, NSUN2, NXF5, OCRL, OFD1, OGT, OPHN1, OTC, PACS1, PAK3, PAX6, PCDH19, PDHA1, PGAP2, PGK1, PHF6, PHF8, PIGA, PIGO, PIGV, PLA2G6, PLP1, PNKP, POGZ, POLA1, PORCN, PPP2R5D, PPT1, PQBP1, PRPS1, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAD21, RAI1, RBM10, RIT1, RLIM, RNF113A, RPL10, RPS6KA3, SATB2, SCN1A, SCN2A, SCN8A, SETBP1, SETD5, SHANK3, SHROOM4, SLC16A2, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SOS1, SOX3, SRPX2, SSR4, ST3GAL3, STAG2, STXBP1, SYN1, SYNGAP1, SYP, TAF1, TBC1D24, TBL1XR1, TBR1, TCF4, THOC2, TIMM8A, TMLHE, TRAPPC9, TRIO, TSC1, TSC2, TSPAN7, TUSC3, UBE2A, UBE3A, UPF3B, USP27X, USP9X, VPS13B, WAC, WDR45, WT1, ZC4H2, ZDHHC15, ZDHHC9, ZEB2, ZMYM3, ZNF41, ZNF711, ZNF81
SNVs and Indels up to 50bp
99.6% positive predictive value
96% clinical sensitivity
Short tandem repeats:
Full mutation tandem repeats, and in some cases intermediate and/or premutation repeats, are reported with the number of repeats. All reported tandem repeat expansions are confirmed by an orthogonal technology.
Disorders that can be tested for include:
Alpha-thalassemia X-linked ID syndrome
CDKL deficiency disorder
Fragile X syndrome
Fragile XE syndrome
Monoamine oxidase deficiency
Siderius type X-linked ID
X-linked creatine deficiency
DNMT2A overgrowth syndrome
Kaufman oculocerebrofacial syndrome
Koolen-de Vries syndrome
81171x1, 81243x1, 81404x3, 81405x7, 81406x9, 81407x5, 81408x3, 81470x1, 81471x1
The CPT codes provided 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.
Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg
Turn around time is 6-8 weeks from sample receipt.