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
Optionally includes:
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
99.7% sensitivity
99.6% positive predictive value
Structural variants:
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:
X-linked disorders
Alpha-thalassemia X-linked ID syndrome
CASK-related ID
CDKL deficiency disorder
Christianson syndrome
Coffin-Lowry syndrome
FG syndrome
Fragile X syndrome
Fragile XE syndrome
HIVEP2-related ID
L1 syndrome
Lujan syndrome
Monoamine oxidase deficiency
Partington syndrome
PPP2R5D-related ID
Renpenning syndrome
Rett syndrome
Siderius type X-linked ID
Sneider-Robinson syndrome
SYNGAP1-related ID
X-linked creatine deficiency
Autosomal disorders
ADNP syndrome
Aspartylglucosaminuria
Cohen syndrome
DOORS syndrome
DNMT2A overgrowth syndrome
Histidemia
Kaufman oculocerebrofacial syndrome
Koolen-de Vries syndrome
Mabry syndrome
MED13L syndrome
Mowat-Wilson syndrome
PACS1 syndrome
SATB2-associated syndrome
SETBP1 disorder
Smith-Kingsmore syndrome
Smith-Lemli-Opitz syndrome
WAGR syndrome
White-Sutton syndrome
Xia-Gibbs 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.