Genomic Unity® Prenatal Analysis

Genomic Unity® Prenatal Analysis is a clinical diagnostic test designed to identify genetic variants that correlate with clinical symptoms manifested in a fetus or a pregnancy, or that lead to severe early onset genetic disorders.

Order this test when amniocentesis has been determined to be necessary in order to determine a prenatal diagnosis for symptoms manifested in the fetus.

  • Aneuploidy analysis of chromosomes 13, 18, 21, X and Y
  • Analysis of uniparental disomy (UPD) and loss of heterozygosity (LOH)
  • Sequence analysis of congenital or pediatric disease genes
  • Genome-wide copy number variant (CNV) analysis
  • STR analysis of: AR (Spinal bulbar muscular atrophy), DMPK (Myotonic dystrophy), FMR1 (Fragile X), FXN (Friedreich’s ataxia)

Maternal cell contamination (MCC) is determined for quality control purposes. Parental inheritance is identified for reported variants.

AAAS, ABCA12, ABCB11, ABCC6, ABCC8, ABCC9, ABCD1, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ACTA1, ACTB, ACTG1, ADA, ADAMTS2, ADGRG1, AFF2, AGA, AGL, AGPS, AGXT, AHCY, AHI1, AIRE, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG6, ALMS1, ALPL, ALX4, AMER1, AMN, AMPD2, AMT, ANO5, ANOS1, APOPT1/COA8, AQP2, AR, ARG1, ARL13B, ARL3, ARMC9, ARSA, ARSB, ARSE, ARX, ASL, ASNS, ASPA, ASPM, ASS1, ATM, ATP5A1/ATP5F1A, ATP6V0A2, ATP6V1B1, ATP7A, ATP7B, ATR, ATRX, B3GALNT2, B4GAT1, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BCKDHA, BCKDHB, BCS1L, BLM, BMP1, BMPR2, BRAF, BSND, BTD, BTK, C5ORF42/CPLANE1, CACNA1C, CANT1, CAPN3, CASK, CBL, CBS, CC2D2A, CDH23, CDKL5, CDKN1C, CECR1, CEP104, CEP120, CEP290, CEP41, CERKL, CFC1, CFTR, CHD2, CHD7, CHM, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST3, CIITA/MHC2TA, CIT, CLCN5, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, CNTN1, CNTNAP1, CNTNAP2, COL11A1, COL11A2, COL17A1, COL1A1, COL1A2, COL27A1, COL2A1, COL4A3, COL4A4, COL4A5, COL6A1, COL6A2, COL6A3, COL7A1, COMP, COX10, COX15, COX20, COX6B1, CPS1, CPT1A, CPT2, CRB1, CREBBP, CRTAP, CSPP1, CTNNB1, CTNS, CTSD, CTSK, CUL4B, CYBA, CYBB, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP27A1, CYP27B1, DAG1, DBT, DCLRE1C, DCX, DHCR7, DHDDS, DHH, DKC1, DLD, DLG3, DLL3, DMD, DMPK, DMXL2, DNAH5, DNAI1, DNAI2, DNM2, DOK7, DUOX2, DYM, DYNC2H1, DYRK1A, DYSF, EBP, ECEL1, EDA, EDNRB, EGR2, EHMT1, EIF2AK3, EIF2B5, ELN, EMD, ENG, EP300, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EXT1, EXT2, EYA1, EYS, F11, F2, F8, F9, FAH, FAM149B1, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCG, FBN1, FGD1, FGD4, FGF8, FGFR1, FGFR2, FGFR3, FH, FIG4, FKBP10, FKRP, FKTN, FLNA, FLNB, FMR1, FOXC1, FOXC2, FOXF1, FOXG1, FOXH1, FOXP2, FOXP3, FOXRED1, FXN, FZD4, G6PC, G6PD, GAA, GABRB3, GABRD, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA3, GATA4, GATA6, GBA, GBE1, GCDH, GCH1, GDAP1, GDF1, GDF5, GDI1, GFM1, GH1, GJA1, GJA8, GJB1, GJB2, GJB3, GJB6, GK, GLA, GLB1, GLDC, GLE1, GLI2, GLI3, GMPPB, GNAS, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GP1BA, GP9, GPC3, GPC6, GRHPR, GRIA3, GRIP1, GUCY2C, GUCY2D, GUSB, H19, HADH, HADHA, HADHB, HAX1, HBA1, HBA2, HBB, HCCS, HCFC1, HDAC8, HEXA, HEXB, HFE2/HJV, HGD, HGSNAT, HK1, HLCS, HMGCL, HMOX1, HNF1B, HOGA1, HOXD13, HPD, HPRT1, HPS1, HPS3, HPS4, HPSE2, HRAS, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSPG2, HUWE1, HYLS1, IDS, IDUA, IFITM5, IFT172, IGF1R, IGF2, IGF2R, IGHMBP2, IKBKAP/ELP1, IKBKG, IL1RAPL1, IL2RG, INPP5E, INPPL1, INSR, IRF6, ISPD, ITGA7, ITGB3, ITGB4, IVD, JAG1, JAK3, KATNB1, KCNJ1, KCNJ11, KCNJ2, KCNK9, KCNQ1, KCNQ1OT1, KDM5C, KDM6A, KIAA0556/KATNIP, KIAA0586, KIAA2022/NEXMIF, KIF7, KLHL40, KMT2D, KRAS, L1CAM, LAMA2, LAMA3, LAMB1, LAMB3, LAMC2, LAMP2, LARGE1/LARGE, LBR, LCA5, LDLR, LDLRAP1, LEMD3, LGI4, LHX3, LIFR, LIPA, LMBRD1, LMNA, LMOD3, LMX1B, LOXHD1, LPL, LRPPRC, LSS, LYRM7, LYST, MAGEL2, MAN2B1, MAOA, MAP2K1, MAP2K2, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MECP2, MED12, MED13L, MED17, MEFV, MEN1, MESP2, MFN2, MFSD8, MID1, MID2, MITF, MKRN3, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MPI, MPL, MPV17, MPZ, MRE11A, MSX1, MTFMT, MTHFR, MTM1, MTR, MTRR, MTTP, MUSK, MUT/MMUT, MVK, MYBPC1, MYCN, MYH3, MYH7, MYO15A, MYO7A, NAGLU, NAGS, NBN, NCF1, NDE1, NDN, NDP, NDRG1, NDUFA1, NDUFA10, NDUFA12, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NEK1, NEU1, NF1, NF2, NIPBL, NKX2-5, NOTCH1, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR0B1, NR2E3, NR5A1, NRAS, NRXN1, NSD1, NTRK1, NUBPL, OAT, OCA2, OCRL, OFD1, OPA3, OPHN1, OTC, OTX2, P3H1, PAFAH1B1, PAH, PANK2, PAX3, PAX6, PAX8, PC, PCBD1, PCCA, PCCB, PCDH15, PDHA1, PDHB, PEPD, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PHF21A, PHF6, PHGDH, PHOX2B, PIBF1, PIEZO2, PIGN, PITX2, PKD1, PKD2, PKHD1, PLA2G6, PLEC/PLEC1, PLOD2, PLP1, PMM2, PMP22, PNPO, POLG, POLR1C, POLR1D, POMGNT1, POMGNT2, POMT1, POMT2, POP1, POR, PORCN, PPIB, PPT1, PQBP1, PREPL, PRODH, PROP1, PRPS1, PSAP, PSAT1, PTCH1, PTEN, PTPN11, PTS, PUS1, PYGM, QDPR, RAB23, RAD21, RAF1, RAG2, RAI1, RAPSN, RARS2, RB1, RBM10, RBM8A, RDH12, RELN, RET, RIPK4, RIT1, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, ROR2, RP2, RPE65, RPGRIP1L, RPL10, RPS19, RPS6KA3, RS1, RTEL1, RUNX2, RYR1, SACS, SALL1, SALL4, SAMD9, SAMHD1, SATB2, SBDS, SBF2, SCN1A, SCN5A, SCO1, SDHA, SDHAF1, SDHD, SEPN1/SELENON, SEPSECS, SERAC1, SERPINA1, SERPINH1, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SH2D1A, SH3TC2, SHANK3, SHH, SHOC2, SHOX, SHROOM4, SIL1, SIX1, SIX3, SIX5, SIX6, SKI, SLC12A1, SLC12A3, SLC12A6, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC25A24, SLC25A4, SLC26A2, SLC26A3, SLC26A4, SLC2A1, SLC35A3, SLC35D1, SLC37A4, SLC39A4, SLC3A1, SLC45A2, SLC4A11, SLC5A5, SLC6A8, SLC7A7, SLC7A9, SLC9A6, SMAD4, SMARCAL1, SMC1A, SMC3, SMN1, SMN2, SMPD1, SMS, SNRPN, SNTA1, SOS1, SOST, SOX10, SOX2, SOX3, SOX9, SPRED1, SRD5A2, SRPX2, SRY, ST3GAL5, STAR, SUCLA2, SUFU, SUMF1, SUOX, SURF1, SUZ12, SYN1, TAT, TAZ, TBCE, TBX1, TBX5, TCAP, TCF4, TCIRG1, TCN2, TCOF1, TCTN1, TCTN2, TCTN3, TECPR2, TERT, TG, TGFBR1, TGFBR2, TGIF1, TGM1, TH, THRA, TIMM8A, TMEM107, TMEM126B, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM5/RXYLT1, TMEM63A, TMEM67, TMEM70, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNXB, TP53, TP63, TPM1, TPM2, TPM3, TPO, TPP1, TREX1, TRIM32, TRIM37, TRIP11, TRMU, TRPS1, TRPV4, TSC1, TSC2, TSEN54, TSFM, TSHB, TSHR, TTC19, TTC21B, TTC37, TTN, TTPA, TUBA1A, TUBB2B, TUBB3, TWIST1, TYMP, TYR, TYRP1, UBE3A, UGT1A1, UNC13D, UPF3B, USH1C, USH1G, USH2A, VHL, VLDLR, VPS13A, VPS13B, VPS45, VPS53, VRK1, VSX2, VWF, WAS, WDR34, WDR35, WDR62, WISP3, WNT10A, WNT7A, WRN, WT1, XIAP, XPA, XPC, ZC4H2, ZDHHC9, ZEB2, ZFPM2, ZFYVE26, ZIC1, ZIC2, ZIC3, ZMPSTE24

More than 900 conditions are considered:

Search the full list of conditions

 

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.

Amniotic fluid - 20ml
Cultured amniotic fluid cells
fetal gDNA - 5μg

A preliminary report based on FISH will be issued within 4 days for aneuploidies of 13, 18, 21, X or Y.

A complete report will be issued as follows:

  • 20 days for cultured cells or gDNA
  • 30 days for amniotic fluid

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