Rare inherited disorders and diseases

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Whole Exome Sequencing 

Whole Exome Sequencing

Whole Exome Sequencing

Whole Exome Sequencing

ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACSF3, ADA, AHCY, AK2, ARG1, ASL, ASS1, AUH, BCKDHA, BCKDHB, BTD, CBS, CD320, CD3D, CD3E, CFTR, CIITA, CPS1, CPT1A, CPT2, CYP11B1, CYP17A1, CYP21A2, DBT, DCLRE1C, DLD, DNAJC19, DUOX2, ETFA, ETFB, ETFDH, FAH, G6PD, GAA, GALC, GALE, GALK1, GALT, GBA, GCDH, GCH1, GJB2, GJB3, GJB6, GLA, GNMT, GSS, HADH, HADHA, HADHB, HBA1, HBB, HCFC1, HLCS, HMGCL, HPD, HSD17B10, HSD3B2, IDUA, IL2, IL21R, IL2RG, IL7R, IVD, JAK3, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, NADK2, NGLY1, NHEJ1, NKX2-5,NPC1, NPC2, OAT, OPA3, OTC, PAH, PAX8, PCBD1, PCCA, PCCB, PNP, PSAP, PTPRC, PTS, QDPR, RAG1, RAG2, RFX5, RFXANK, RFXAP, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC5A5, SMPD1, STAR, SUCLA2, SUCLG1, TAP1, TAPBP, TAT, TG, THRA, TPO, TSHB, TSHR

• FSHD1Repeat Contraction Testing
• Cystic Fibrosis (CFTR) Gene Analysis
• Cystic Fibrosis (CFTR) del508 Mutation Analysis
• Cystic Fibrosis (CFTR) Gene Panel deletion /duplication Analysis
• NSD1 Gene Sequencing
• Sathre-Chotzen Syndrome (TWIST 1 and FGFR2) Gene Sequencing
• ZIC2 Gene Panel deletion /duplication Analysis
• MYH9 gene sequencing
• Nail-patella Syndrome (LMX1B) gene sequencing 
• KHDC3L and NALP7 gene sequencing 
• Werner syndrome (WRN) gene sequencing
• FLT4 gene sequencing
• Bohring-Opitz syndrome (ASXL1) gene sequencing
• Marinesco-Sjogren syndrome (SIL1) gene sequencing
• THRB gene sequencing
• PRNP gene sequencing
• KIT gene sequencing
• LMNA gene sequencing
• LHCGR gene sequencing
• FGFR2 gene sequencing
• DNAAF2 and DNAAF5 gene sequencing
• COL2A1 gene sequencing
• OCRL gene sequencing
• Achalasia-addisonianism-alacrimia syndrome (AAAS) gene sequencing
• Congenital erythropoietic porphyria (UROS) gene sequencing
• CASR gene sequencing
• VDR gene sequencing
• VPS13A and XK gene sequencing
• Griscelli syndrome type I (MYO5A) gene sequencing
• NR0B1 gene sequencing
• ITGA3 gene sequencing
• PHEX gene sequencing
• Visceral myopathy (ACTG2) gene sequencing
• AMHR2 gene sequencing
• TRIM36 gene sequencing
• SRD5A2 gene sequencing
• Keutel syndrome (MGP) gene sequencing
• SLC4A1 gene sequencing
• HPRT1 gene sequencing
• Borjeson-Forssman-Lehmann syndrome (PHF6) gene sequencing
• CYP19A1 gene sequencing
• NSDHL gene sequencing
• HESX1 gene sequencing
• Fragile X syndrome (FMR1) gene sequencing (only point mutations)
• Thrombocytopenia-absent radius syndrome (RBM8A) gene sequencing
• IGF1 gene sequencing
• IRF6 gene sequencing
• Pulmonary alveolar microlithiasis (SLC34A2) gene sequencing
• WT1 gene sequencing - germline mutations
• WT1 gene sequencing - somatic mutations
• GLI3 gene sequencing
• STK11 gene sequencing
• NOD2 gene sequencing
• ANO5 gene sequencing
• N-MYC (MYCN) deletion/duplication analysis
• CDC73 deletion/duplication analysis
• Traboulsi syndrome (ASPH) gene sequencing
• BMPR2 gene sequencing
• TERT gene sequencing
• Werner syndrome (RECQL2) gene sequencing
• EBP gene sequencing
• Parkes Weber syndrome (RASA1) gene sequencing
• TCOF1 gene sequencing
• Papillon-Lefevre syndrome (CTSC) gene sequencing
• Trimethylaminuria (FMO3) gene sequencing
• Raine syndrome (FAM20C) gene sequencing
• Transthyretin(TTR) gene sequencing
• Pendred syndrome (SLC26A4) gene sequencing
• Infantile hypercalcemia-1 (CYP24A1) gene sequencing
• Nicolaides-Baraitser Syndrome (SMARCA2) gene sequencing
• COPA gene sequencing
• COL1A1 gene Sequencing
• LPIN2 gene Sequencing
• HADHA gene sequencing
• SI gene sequencing
• Larsen syndrome gene sequencing
• SUMF1 gene sequencing
• ECM1 gene sequencing
• SLC39A4 gene sequencing
• FLCN gene sequencing
• MYCN gene sequencing
• SLC29A3 gene sequencing
• VPS13B deletion/duplication analysis
• TPP1 gene sequencing
• Cohen's syndrome (VPS13B) gene analysis
• Pallister Hall syndrome (GLI3) gene analysis
• Smith-Lemli-Opitz syndrome (DHCR7) gene analysis
• Sotos syndrome (NSD1) deletion/duplication analysis
• WAGR syndrome (PAX6) deletion/duplication analysis
• Cantu syndrome (ABCC9) gene sequencing
• Pulmonary alveolar microlithiasis (SLC34A2) gene analysis
• Beckwith-Wiedemann /Russell-Silver syndrome Methylation-specific deletion/duplication analysis
• Prader-Willi/Angelman syndrome Methylation-specific deletion/duplication analysis 
• DiGeorge syndrome deletion/duplication analysis
• Subtelomere deletion/duplication analysis
• MLPA probes for Chromosomes - 13, 18, 21 and Sex chromosomes
• Coffin Lowry syndrome (RPS6KA3) gene analysis
• POLG gene sequencing
• PDGFRB gene sequencing
• TTN gene sequencing
• Johanson-Blizzard syndrome (UBR1) gene analysis
• MLPA for common microdeletion syndromes
• Hyaline fibromatosis syndrome (ANTXR2) gene analysis

• Rubinstein-Taybi syndrome (CREBBP and EP300) gene sequencing
• Trichohepatoenteric syndrome 1 (TTC37 and SKIV2L) gene sequencing
• CHARGE syndrome (SEMA3E and CHD7) gene sequencing
• CACNA1S and SCN4A gene sequencing
• PITX2 and FOXC1 gene sequencing
• Griscelli syndrome gene panel
• TMEM173 and COPA gene sequencing
• SERPING1 and F12 gene sequencing
• KMT2D and KDM6A gene sequencing
• GGCX and VKORC1 gene sequencing
• RYR1 and CACNA1S gene sequencing(susceptibility to Malignant Hyperthermia)
• Townes-Brocks syndrome (SALL1 and DACT1) gene sequencing
• Hypercholanemia gene panel
• EVC and EVC2 gene sequencing
• Cockayne syndrome gene panel
• Bardet-Biedl syndrome gene panel
• Ciliopathy gene panel
• Cornelia de Lange Syndrome gene panel
• Noonan syndrome gene panel
• Craniosynostosis gene panel
• Sotos syndrome gene panel
• Non-immune hydrops gene panel
• Rasopathy gene Panel
• Fraser syndrome gene panel
• Seckel syndrome gene panel
• Klippel-Feil syndrome gene panel
• Pulmonary surfactant metabolism dysfunction gene panel
• Cystinuria and Hypotonia-cystinuria syndrome (SLC3A1, PREPL and SLC7A9) deletion/duplication analysis