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Congenital Hypotonia Xpanded Panel

New York
Approved


Genes

A2ML1, AAAS, AARS, AASS, ABAT, ABCB7, ABCC8, ABCC9, ABCD4, ABHD11, ACACA, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT2, ACO2, ACOX1, ACP2, ACP6, ACSL4, ACTA1, ACTB, ACTG1, ACTG2, ACY1, ADAMTS2, ADAP2, ADAR, ADAT3, ADCK3, ADCY5, ADCY6, ADGRG1, ADK, ADNP, ADPGK, ADSL, AFF2, AFF4, AFG3L2, AGA, AGK, AGO1, AGRN, AGTPBP1, AHCY, AHDC1, AHI1, AHSG, AIFM1, AIFM3, AIMP1, AK9, AKT1, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, AMER1, AMMECR1, AMPD1, AMPD2, AMT, ANK3, ANKRD11, ANOS1, ANTXR2, AP1S1, AP1S2, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APOA1BP, APOPT1, AR, ARFGEF2, ARHGAP11B, ARHGAP31, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARMC9, ARSA, ARV1, ARVCF, ARX, ASAH1, ASCL1, ASCC1, ASH1L, ASNS, ASPA, ASPM, ASXL1, ASXL2, ASXL3, ATAD3A, ATCAY, ATIC, ATL1, ATM, ATP1A2, ATP1A3, ATP10A, ATP2B3, ATP5A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP6V1B2, ATP7A, ATP7B, ATP8A2, ATPAF2, ATRX, AUTS2, B3GALNT2, B4GALT1, B3GALT6, B3GAT3, B4GALT7, B4GAT1, B9D1, BAZ1B, BBS1, BCAP31, BCKDHA, BCKDHB, BCL11A, BCL11B, BCOR, BCS1L, BDNF, BICD2, BIN1, BLK, BMP1, BMP2, BMP4, BMPER, BOLA3, BPTF, BRAF, BRAT1, BRPF1, BRWD3, BSCL2, BSND, BTD, BUB1B, BUB3, C10orf2, C11orf73, C12orf4, C12orf57, C12orf65, C5orf42, C21orf2, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1S, CAD, CAMK2B, CAMKMT, CAMTA1, CANT1, CAPN3, CARS2, CASK, CASR, CBL, CC2D2A, CCDC115, CCDC141, CCDC174, CCDC22, CCDC47, CCDC78, CCDC88A, CCNF, CD59, CD96, CDC42, CDH23, CDK13, CDKL5, CDKN1C, CDRT15, CEP104, CEP120, CEP290, CEP41, CEP57, CFL2, CFTR, CHAMP1, CHAT, CHD1, CHD2, CHD3, CHD4, CHD7, CHD8, CHKB, CHMP1A, CHRNA1, CHRNA7, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHST3, CKAP2L, CLCN4, CLCN7, CLCNKA, CLCNKB, CLIP2, CLP1, CLPB, CLTC, CNKSR2, CNTN1, CNTNAP1, CNTNAP2, COA6, COA7, COG1, COG4, COG5, COG6, COG7, COG8, COL11A2, COL12A1, COL13A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A3BP, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COLQ, COMT, COQ4, COQ7, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX8A, CPLX1, CPS1, CPT1A, CPT2, CREBBP, CRYAB, CSNK2A1, CSNK2B, CSPP1, CSTB, CTBP1, CTCF, CTNNB1, CTNND2, CTNS, CTU2, CUL4B, CYFIP2, CWF19L1, CYB5R3, CYP24A1, CYP27B1, CYP2R1, D2HGDH, DAG1, DAO, DARS, DBT, DCC, DCHS1, DCPS, DCX, DDC, DDOST, DDR2, DDX11, DDX3X, DEAF1, DEPDC5, DGAT1, DGCR14, DGCR2, DGCR6, DGCR8, DGUOK, DHCR7, DHDDS, DHFR, DHX30, DIAPH1, DIS3L2, DHTKD1, DKK1, DLAT, DLD, DLG3, DLG4, DMD, DNA2, DNAJB2, DNAJC12, DNAJC19, DNAJC21, DNM1, DNM2, DNM1L, DNMT3A, DOCK6, DOK7, DOLK, DPAGT1, DPF2, DPH1, DPM1, DPM2, DPM3, DPYD, DSE, DST, DUOX2, DUOXA2, DYNC1H1, DYRK1A, EARS2, EBF3, EBP, ECHS1, EDN1, EDN3, EDNRB, EEF1A2, EFEMP2, EFNB1, EFTUD1, EFTUD2, EGR2, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, ELAC2, ELN, ELP2, EMC1, EMD, EP300, EPCAM, EPG5, EPHA4, ERCC1, ERCC2, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERMARD, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC9, EXT2, EXTL3, EZH2, FAM126A, FAM134B, FANCG, FAR1, FARS2, FARSB, FASTKD2, FAT4, FBN1, FBN2, FBP1, FBXL4, FBXO11, FDX1L, FDXR, FEZF1, FGF12, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FGFRL1, FH, FHL1, FIG4, FKBP14, FKRP, FKTN, FLAD1, FLII, FLG, FLNA, FLNB, FLRT3, FLVCR1, FMN2, FMR1, FOXC1, FOXE1, FOXG1, FOXP1, FOXP2, FOXRED1, FRG1, FRRS1L, FUCA1, G6PD, GAA, GABRA1, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GALC, GALE, GALNS, GAMT, GAN, GARS, GATA1, GATA4, GATA6, GATAD2B, GBA, GBE1, GCDH, GCH1, GCK, GCSH, GFPT1, GDI1, GDNF, GFAP, GFER, GFM1, GJA1, GJB2, GJC2, GK, GLB1, GLDC, GLE1, GLRA1, GLRA4, GLRX5, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAO1, GNA11, GNAI3, GNAS, GNB1, GNB5, GNE, GNPAT, GNPTAB, GORAB, GP1BB, GPAA1, GPC3, GPC4, GPHN, GPT2, GPX4, GRIA3, GRIA4, GRID2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM1, GTF2I, GTF2IRD1, GTPBP2, GTPBP3, GUCY2D, GUSB, HACE1, HADH, HADHA, HADHB, HBA1, HBA2, HCFC1, HCN1, HDAC4, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HFE, HIBCH, HINT1, HIRA, HIST1H1E, HIVEP2, HLCS, HMBS, HMGA2, HMGCS2, HNF1A, HNF4A, HNRNPH2, HNRNPK, HNRNPU, HPD, HPRT1, HRAS, HS6ST1, HSD17B10, HSD17B4, HSPB1, HSPB8, HSPD1, HTRA2, HUWE1, HYLS1, IARS, IBA57, IDH2, IDUA, IER3IP1, IFIH1, IFT140, IFT81, IGF2, IGHMBP2, IKBKAP, IL17RD, IL1RAPL1, INPP5E, INPP5K, INPPL1, INS, INSR, IQCB1, IQSEC2, ISCA2, ISCU, ISPD, ITGA3, ITGA7, ITGB6, ITPA, ITPR1, IYD, JAG1, JMJD1C, KANK1, KANSL1, KAT6A, KAT6B, KBTBD13, KCNA2, KCNAB2, KCNB1, KCNC1, KCNC3, KCNE1L(KCNE5), KCNH1, KCNJ10, KCNJ11, KCNJ2, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCTD7, KDM1A, KDM5C, KDM6A, KIAA0196, KIAA0556, KIAA0586, KIAA0753, KIAA1109, KIAA1279, KIAA2022 (NEXMIF), KIDINS220, KIF11, KIF1A, KIF21A, KIF22, KIF2A, KIF5A, KIF5C, KIF7, KISS1R, KLF13, KLHL40, KLHL41, KLHL7, KMT2A (MLL), KMT2B, KMT2C, KMT2D, KPTN, KRAS, L1CAM, L2HGDH, LAGE3, LAMA1, LAMA2, LAMB1, LAMB2, LAMP2, LARGE, LARP7, LARS, LAS1L, LEMD3, LETM1, LGI4, LHX3, LHX4, LIAS, LIFR, LIMK1, LIMS2, LINS, LIPT1, LMBR1, LMBRD1, LMNA, LMOD3, LMX1B, LONP1, LPL, LRP4, LRP5, LRPPRC, LTBP4, LTC4S, LYRM4, LYRM7, LZTR1, MAF, MAG, MAGEL2, MALL, MAN1B1, MAN2B1, MANBA, MAP2K1, MAP2K2, MAP3K7, MAPRE2, MARS2, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCM3AP, MCOLN1, MECP2, MED12, MED13, MED13L, MED25, MEF2C, MEFV, MEGF10, MEIS2, METTL23, MFF, MFN2, MFSD2A, MFSD8, MGAT2, MICU1, MIPEP, MKS1, MLXIPL, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOGS, MORC2, MPC1, MPDU1, MPI, MPLKIP, MPV17, MPZ, MRE11A, MRPS16, MRPS22, MRPS34, MSTO1, MTFMT, MTM1, MTMR14, MTO1, MTOR, MTR, MTRR, MTTP, MUSK, MUT, MVK, MYBPC3, MYCN, MYF6, MYH3, MYH7, MYL2, MYO1H, MYO18B, MYO5A, MYO7A, MYO9A, MYOT, MYPN, MYT1L, NAA10, NAA15, NACC1, NADK2, NAGA, NALCN, NANS, NARS2, NAT8L, NBAS, NDN, NDNL2, NDP, NDST1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF2, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECAP1, NEDD4L, NEFL, NEK1, NELFA, NEU1, NF1, NFIA, NFIB, NFIX, NGLY1, NHLRC2, NHS, NIPBL, NKX2-1, NKX2-5, NKX6-2, NLRC4, NMNAT1, NONO, NOTCH3, NPAP1, NPC1, NPC2, NPHP1, NPHS1, NPRL3, NR2F1, NR2F2, NR3C2, NRAS, NRXN1, NSD1, NSDHL, NSMF, NSUN2, NTRK2, NUBPL, NUP107, NUP62, NUS1, OCLN, OCRL, OFD1, OGDH, OPA1, OPHN1, ORAI1, OSGEP, OSTM1, OTUD6B, OTX2, P4HB, PACS1, PACS2, PAFAH1B1, PAH, PAM16, PANK2, PAX6, PAX8, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH19, PCLO, PCYT1A, PDE10A, PDE4D, PDE6D, PDHA1, PDHB, PDHX, PDP1, PDSS2, PDX1, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGM3, PHF21A, PHF6, PHGDH, PHIP, PHKA2, PHKB, PHKG2, PHOX2B, PIBF1, PIEZO2, PIGA, PIGG, PIGH, PIGL, PIGN, PIGO, PIGS, PIGT, PIGV, PIGY, PIK3CA, PIK3R1, PIK3R2, PKD1, PKHD1, PLA2G6, PLAA, PLAGL1, PLCB1, PLCB4, PLEKHG2, PLEKHG5, PLOD1, PLP1, PLXND1, PMM2, PMP22, PMPCA, PNKP, PNP, PNPLA2, PNPLA6, PNPLA8, PNPO, PNPT1, POC1A, POGZ, POLG, POLG2, POLR3A, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PON2, PON3, POU1F1, PPA2, PPARGC1A, PPM1B, PPM1D, PPP1CB, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM12, PRDM16, PRDM5, PRDX1, PREPL, PRF1, PRKAR1A, PRKCG, PRKD1, PRMT7, PRODH, PROK2, PROKR2, PROP1, PROSC, PRPH, PRPS1, PRRT2, PRUNE, PRX, PSAP, PSAT1, PSMD12, PTCH1, PTCHD1, PTDSS1, PTEN, PTPN11, PTPLA, PTRF, PTRH2, PTS, PUF60, PURA, PUS1, PUS3, PYCR1, PYCR2, PYGM, PYROXD1, QARS, QDPR, RAB11B, RAB18, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAF1, RAI1, RAP1A, RAP1B, RAPSN, RARB, RARS, RARS2, RASA2, RBM10, REEP1, RELN, RERE, RET, REV3L, RFC2, RFT1, RHOBTB2, RIN2, RIT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNF125, RORA, RPGRIP1L, RPL10, RPS23, RPS6KA3, RRAS, RREB1, RRM2B, RSPRY1, RUSC2, RYR1, RYR2, SACS, SALL1, SAMD9, SAMHD1, SARS2, SATB2, SBDS, SC5D, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SDHD, SEC24C, SEC24D, SEMA3A, SEMA3E, SEMA5A, SEPN1, SEPSECS, SERAC1, SERPINA1, SERPINH1, SET, SETBP1, SETD1B, SETD2, SETD5, SETX, SFXN4, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SGPL1, SH2B1, SH3TC2, SHANK2, SHANK3, SHOC2, SIGMAR1, SIK1, SIL1, SIM1, SIN3A, SIX3, SKI, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC18A2, SLC18A3, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC2A1, SLC2A10, SLC22A5, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A24, SLC25A26, SLC25A3, SLC25A4, SLC25A46, SLC26A2, SLC26A4, SLC29A3, SLC3A1, SLC30A9, SLC33A1, SLC34A1, SLC35A2, SLC34A3, SLC35A3, SLC35C1, SLC39A14, SLC39A8, SLC45A1, SLC46A1, SLC5A5, SLC5A7, SLC52A2, SLC52A3, SLC6A1, SLC6A19, SLC6A3, SLC6A5, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLC9A6, SMAD2, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMG9, SMN1, SMPD1, SMS, SNAP25, SNAP29, SNIP1, SNRPN, SNX14, SON, SOS1, SOS2, SOX10, SOX11, SOX2, SOX5, SOX9, SPARC, SPAST, SPATA5, SPECC1L, SPEG, SPG20, SPR, SPRED1, SPRY4, SPTAN1, SPTBN2, SPTBN4, SRCAP, SRD5A3, SRP54, SSR4, ST3GAL3, ST3GAL5, STAMBP, STAT1, STAT3, STIM1, STRA6, STRADA, STT3A, STT3B, STX11, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SUV420H1, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYT1, SYT2, SZT2, TAB2, TACO1, TACR3, TAF1, TAF6, TANGO2, TARS2, TAZ, TBC1D20, TBC1D23, TBC1D24, TBCD, TBCE, TBCK, TBL2, TBL1XR1, TBR1, TBX1, TBX4, TCAP, TCF20, TCF4, TCTN1, TCTN2, TCTN3, TDP2, TECPR2, TELO2, TFAP2B, TG, TGFB3, TGFBR1, TGFBR2, TH, THOC2, THRA, THRB, TIMM50, TK2, TKT, TLK2, TMCO1, TMEM106B, TMEM138, TMEM165, TMEM199, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TMEM70, TMEM8C, TNFRSF11A, TNNT1, TNPO3, TNXB, TOE1, TOR1A, TOR1AIP1, TP53RK, TP63, TPI1, TPK1, TPRKB, TPM2, TPM3, TPO, TRAF7, TRAK1, TRAPPC11, TRAPPC9, TREX1, TRHR, TRIM2, TRIM32, TRIM37, TRIO, TRIP12, TRIP13, TRIP4, TRMT1, TRMT10C, TRMT5, TRMU, TRNT1, TRPS1, TRPV4, TSC1, TSEN15, TSEN2, TSEN54, TSFM, TSHB, TSHR, TTN, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUFM, TXN2, TYMP, UBA1, UBA2, UBA5, UBE2A, UBE3A, UBE3B, UBR1, UBTF, UFD1L, UNC13A, UNC80, UPB1, UPF3B, UQCC2, UQCC3, UQCRQ, USP18, USP7, USP9X, VAC14, VAMP1, VAPB, VARS2, VDR, VIPAS39, VLDLR, VMA21, VPS11, VPS13B, VPS13D, VPS33B, VPS53, VRK1, WAC, WARS2, WDR11, WDR26, WDR4, WDR45, WDR62, WDR73, WDR81, WFS1, WHSC1, WNK1, WNT10A, WWOX, YWHAE, YWHAG, XYLT1, XYLT2, YARS2, YME1L1, YY1, ZBTB18, ZBTB20, ZC4H2, ZDHHC15, ZDHHC9, ZEB2, ZFP57, ZIC1, ZMYND11, ZNF148, ZNF423, ZNF592, ZNHIT3, ZSWIM6

Conditions

  • Ullrich Congenital Muscular Dystrophy
  • ADNP syndrome
  • Bainbridge-Ropers syndrome
  • Central Core Disease
  • Congenital Hypotonia
  • DDX3X-related Disorder
  • FOXG1 syndrome
  • GRIN2B-related Neurodevelopmental Disorder
  • KBG Syndrome
  • Kleefstra Syndrome
  • MED13L Syndrome
  • PTEN-related Disorders
  • PURA Syndrome
  • SATB2-associated Syndrome
  • SCN2A-related Disorders
  • Spinal Muscular Atrophy with lower extremity predominance
  • STXBP1 Encephalopathy with Epilepsy
  • X-linked Myotubular Myopathy
  • Xia-Gibbs Syndrome
  • Cohen Syndrome
  • Congenital Myopathies
  • Kabuki syndrome (KS)
  • Nemaline Myopathy
  • Noonan Syndrome
  • Pitt Hopkins Syndrome
  • Rett syndrome
  • Rubinstein-Taybi syndrome (RSTS)
  • Sotos Syndrome
  • Spinal Muscular Atrophy
  • Coffin-Siris syndrome

Clinical Utility

  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Recurrence risk assessment

Lab Method

  • Next-Gen Sequencing

Test Code

TG77

CPT Codes*

81175x1; 81185x1; 81302x1; 81321x1; 81404x1; 81406x2; 81408x2

ABN Required

No

Turnaround Time**

6 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Extracted DNA

*The CPT codes provided are based on AMA guidelines and 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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.