Casandra Test Code PG10548Version 1 (DRAFT)
Non-Immune Hydrops Fetalis Panel
Use
This test is intended for individuals with features consistent with non-immune hydrops fetalis who have been clinically or suspectly diagnosed with the condition. It is also recommended for prenatal cases with ultrasound findings where red cell alloimmunization has been ruled out. The panel helps in identifying genetic causes of non-immune hydrops fetalis, which can aid in diagnosis and management.
Special Instructions
Exome-wide CNV analysis can be added for an additional fee. It's important to note that STAT testing is available with a surcharge, and funding approval from institutions like the Ministry of Health may be necessary. Also, the test setup is designed to accept various specimen types including blood, DNA, buccal, saliva, and tissue depending on the platform used (Exome or Genome).
Limitations
This test does not detect all potential genetic causes for non-immune hydrops fetalis. Detection is limited to the 149 genes covered in the panel, and the methodology may miss mutations outside exon regions or in areas not captured by CNV. Also, it has not been cleared or approved by the FDA.
Methodology
Biomarkers
This component involves NGS-based testing with copy number variation analysis on an exome or genome platform. It is designed specifically for identifying genetic causes related to non-immune hydrops fetalis, examining 149 genes.
Other (581 genes)
ACTA2ACTC1ACTG2ADAMTS2ADAMTSL2AEBP1ALK3 (BMPR1B)ALX1ALX3ALX4AMMECR1LANEK57ANGPT1ANGPT2ANKRD11ANO5ANTXR1AP1S2APCARID1BARGARID1AARRDC3ART3ATP1A3ATP2C1ATP8A2AURKCB3GALT6B3GLCTB3GNT3B4GALT7BBS1BBS2BBS4BBS5BBS7BBS9BCL11ABCL11BBCRBHLHA9BRAFBRAFC10ORF11C12ORF14C2C5ORF42C6ORF203C8ORF37CA5ACA5BCANT1CAPN1CAPN10CAPN3CAPN9CAPSCCNB3CCNCCCNG1CCNG2CCNG3CCNOCCSER2CD207CDH3CDH9CDK10CDK11BCDKN1ACDKN1CCDKN2CCDK13CELSR1CEP192CEP55CEP95CEP19CEPT1CES1CES2CES3CES4ACHAMP1CHEK2CHST3CICCITCLN6CLN8CLPBCLP1CLSTN2CNKSR3CNSTCNTN2CNTNAP2CPS1CPT1ACR64CRMP1CSF2CSPG4CTLA4CYB5D1CYB5R2CYBRD1CYTIPDAAM1DAG1DAPDCTN1DDX58DDX6DDR1DEDDEGS1DEPDC1DERADESI1DGAT1DGFDHSRDIABLODICER1DIO1DIO3DIP2CDKFZP434A0798DLG4DROSHADSCR3DTNADUSP27DUTYDYMDYNC2LI1EHD4EIF5ELFRNGELF3EMILIN3EML5EMX2ENPP3ENTPD6EPHA2EPHA4EPRS1ESPN3ESRRAETVDEZRFAddFASNFECHFGD5FHITFIBFRA1FRG1FRYFRYLFSD1LFSTFYFYBGABBR2GAP43GATLCIGATZGBPGCGRGFI1BGFM1GH1GLILDGLIS1GLIS3GLSGUSBGYGGYPGYPCGYPBH4C2HEPACAMHEXAHEXBHMGN1HNF4AHNRNPABHNRNPLHNRNPLLHPDHRGHS6ST3IL11RAIL12BIL12RB1IL12RB2IL1RAPIL3IL4RIL6RIL7RIMPAD1INHAINHBCINVSIP11ISFGJPH1JRKLJUNDKIF1AKIF1CKIF3BKIFAP3KLF11KLRF1KMT2BKMT2EKNG2KPNA1KRIT1KRT38KRT7LATS1LATS2LEFTY1LEFTY2LELMLGR6LINGO1LKAH1LMO4LOC100128400LRIT3LRSAM1LRXLTC4SMAFBMATN4MBOAT1MC1RMCATMDH2MEAF6MECOMMEF2DMERTKMFAP5MHCML4MLNRMLRNMN1MOAP1MPA1MPA2MPB64MPRRGE2MSISMSLNMST1MST1RMSTNLGMT3MTA3MTHFD1MTHFD2MTHRMTMR6MTNR1AMTNR1BMTRRMUTYHMYBPHLMYPMYSM1N0002N4N4BP1N4BP3N4BP2L1NABP1NAPINBEANEBLNEFHNEFLNEKNKAIN3NOLANNSRSNSD2NSF2NSF3NSL1NT5ENTNG1NTRK1NTSR2NTSOAS1OBASONRG3ORMDL2ORMDL3OSR1OSR2OSTOTLFOVCH1P2RY1P4HBPAFAH2PAK3PAM16PAM16PAOPAPSS1PAPSS2PCDH11YPCDH11XPCDHGA3PCG-002PCG-086PDGFBPDGFDPDGFRaPDGGRBPDPK1PDXDC1PDZK1PFC4APFCBPIDD1PIK3R5PIP4K2CPLAGL1PLATPLCB2PLD2PLGLB3PMF1PMLPMP22PNKDPNPLAPOF1POU1F1POU3FPP2RTPPARGPPHLN1PPLPRAM1PRCPRCCPRF1PRKPRMT5PRNDPROC1PROX2PRSSPTH2RPTG1PTK7PTPRTPTTG1PTX4PVT1PYLE1PYXQSOX2RAB1CRAD18RALGAPA2RALGPSRAMP1RANGAP1RASGRP1RBP4RBX1RCLRCL1RDMJM3RER1RERGLRHAGRHBDF1RHBDF2RHORHOGRHOMRILPL1RILPL2RIT1RNGRNLSRPGRRPGRIP1LRPL15RPL23ARPL24RPL31RPL31-AS1RPL36ALRPN2RPS2RPS15RPS15ARPS16RPS3RPS3APRRG3RSAD2RBTN1RIP2RMCPRICTRRGHRRASRSL1D1RSPO3RTL4RTN1RUNX2RVDVNRYR1S1PR3S1PR4S0026S0215SAAL1SAP7LSDC1SDCBPSDF2L1SDHASDHBSECISBP2SEH1LSEL1L3SEP6SETD5SETD6SHOC2SHOX2SINT1SKAP1SLITRKSLC28A1SLC38A3SLC47A2SLC5A1SLC6A14SLC7A14SLFN12SLUSMAD1SMAP2SMGBSMPD3SMURAA1SMYOSNORA14SNURAFSORSSPARCSPATS2SPDYCSPENSPHK1SQLINSSR1SSX3STST19STAT5BSTAU1STK17ASTK38STK38LSTX8SULF2SULFSURF1SYNE2SYNPOSYPL1TAGLNTAOK3TARDBPTASP1TBX2TBXA1TBXAS1TCF20TCF7L2TCL6TCL3TCN1TCP11TDGF1TEAD2TEKT5TEL2TERRATFAP4THAP5THOC2TMED3TMEM142BTMEM189-UBE2V1TMGTMM7TMTC1TOE1TRIB3TRIM39TRPV3TRPV4TRRAPTSFTSSTTUSC3TUSC5TWEAKTXNA1TYW3TYSTUBAC2UBE2CBPUBE3AUCN2UBE3CUBE4BUGGT2ULK4UNC84BUNC93AUPF3BUSP11USP28USP29USP33USP34USP43USP98UTP18UXTPVAPAVASH1VAX2VBSVEGFR1VEGFR2VEMVNN1VPS26AVPS26BWAPLWASLWRBWNT10BWNT11WWDAOWWP2XMD2XPAXPCZAR1ZC4H2ZNRZSWIM1ZYF
Result Turnaround Time
Related Documents
For more information, please review the documents below
New York Approved
Volume