Alpha Thalassemia Carrier Screening HBA1, HBA2
Comp
Bartter syndrome and related disorders NGS panel BSND, CASR, CLCNKA, CLCNKB, GNA11, KCNJ1, MAGED2, SLC12A1, SLC12A3
Del Dup
NGS
CADASIL NGS panel HTRA1, NOTCH3
Del Dup
NGS
Cerebral small vessel disease NGS panel COL4A1, COL4A2, CTC1, GLA, HTRA1, NOTCH3, TREX1
Del Dup
NGS
Common Carrier Screening Panel ASPA, BCKDHA, BLM, CFTR, DMD, ELP1, FANCC, FMR1, GBA, HBA1, HBA2, HBB, HEXA, MCOLN1, PAH, SMN1, SMN2, SMPD1
Comp
Connective tissue disorder NGS panel ACTA2, ADAMTS2, AEBP1, ATP7A, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DCHS1, DSE, FBN1, FBN2, FKBP14, FLCN, FLNA, FOXE3, LOX, LTBP3, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, ZNF469
Del Dup
NGS
Cystic Fibrosis Carrier Screening CFTR
Comp
Duchenne/Becker Muscular Dystrophy Carrier Screening DMD
Comp
Extended Carrier Screening panel ACADM, ARSA, ARSB, ASPA, ASS1, BCKDHA, BCKDHB, BLM, BTD, CFTR, DHCR7, DMD, ELP1, FANCC, FMR1, G6PC, GAA, GALC, GALE, GALK1, GALT, GAMT, GATM, GBA, GLA, HBA1, HBA2, HBB, HEXA, HFE, IDS, IDUA, IVD, MCOLN1, MMACHC, OTC, PAH, PHKA2, PHKG2, PKHD1, PYGL, SLC37A4, SLC6A8, SMN1, SMN2, SMPD1, SUMF1
Comp
Fabry disease GLA
Del Dup
NGS
Fragile X Carrier Screening FMR1
PCR
Hyperuricemic nephropathy, familial juvenile NGS panel REN, SEC61A1, UMOD
Del Dup
NGS
Kabuki syndrome NGS panel HNRNPK, KDM6A, KMT2D, RAP1A, RAP1B
Del Dup
NGS
Keratoconus and related disorders NGS panel MIR184, PRDM5, VSX1, ZNF469
Del Dup
NGS
Lissencephaly and related disorders NGS panel ACTB, ACTG1, ADGRG1, ARX, ATP6V0A2, B3GALNT2, B4GAT1, CDK5, DAG1, DCX, DYNC1H1, FKRP, FKTN, GMPPB, ISPD, KATNB1, KIF2A, KIF5C, LAMA2, LAMB1, LARGE1, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RELN, RXYLT1, SNAP29, SRD5A3, TMTC3, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62
Del Dup
NGS
Lissencephaly core NGS panel ARX, CDK5, DCX, KATNB1, LAMB1, NDE1, PAFAH1B1, RELN, TMTC3, TUBA1A
Del Dup
NGS
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel AKT3, CCND2, PIK3R2
Del Dup
NGS
Nephronophthisis and related disorders NGS panel AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1, GLIS2, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, TMEM138, TMEM216, TMEM67, TRAF3IP1, TTC21B, WDR19, XPNPEP3, ZNF423
Del Dup
NGS
Phenylketonuria Carrier Screening PAH
Comp
Popliteal pterygium syndrome NGS panel IRF6, RIPK4
Del Dup
NGS
Renal tubular dysgenesis NGS panel ACE, AGT, AGTR1, REN
Del Dup
NGS
Sickle Cell Anemia and Beta Thalassemia Carrier Screening HBB
Comp
Skeletal dysplasia and skeletal ciliopathy NGS panel ALPL, ARSE, C21orf2, C2CD3, CEP120, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, DDR2, DYNC2H1, DYNC2LI1, EBP, EVC, EVC2, FGFR3, FLNB, HSPG2, ICK, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, INPPL1, KIAA0586, KIAA0753, LBR, LIFR, MMP13, MMP9, NEK1, NKX3-2, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TCTEX1D2, TRIP11, TRPV4, TTC21B, WDR19, WDR34, WDR35, WDR60
Del Dup
NGS
Skraban-Deardorff syndrome WDR26
Del Dup
NGS
Sotos syndrome and related disorders NGS panel APC2, EZH2, NFIX, NSD1
Del Dup
NGS
Spinal Muscular Atrophy Carrier Screening SMN1, SMN2
Comp

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