Linear Skin Defects With Multiple Congenital Anomalies 2; Lsdmca2 Is also known as aplcc, aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies.
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Panel Name, Specifity and genes Tested/covered |
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...)
View the complete list with 154 more genes
BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB, UQCRC2, FBXL4, GFM1, MRPS16, ELAC2, MRPS7, MRPS22, MRPS23, GTPBP3, PUS1, LRPPRC, NDUFAF5, APTX, SFXN4, MGME1, SLC19A3, NFU1, LIAS, MRPL44, COQ8A, MFN2, LARS2, NDUFA13, RRM2B, TPK1, SARS2, PDSS1, COA6, RNASEH1, ATPAF2, NDUFAF1, COQ8B, MTO1, COQ4, ISCA2, COQ6, NUBPL, TRIT1, NDUFA11, NDUFB11, APOPT1, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, UQCC2, PDHX, LYRM4, RARS2, ACAD9, VARS2, AGK, COQ7, COX10, COX15, COX6A1, COX6B1, COX7B, COX8A, PDSS2, TRMT5, PNPT1, ETHE1, NDUFA12, YARS2, TACO1, BOLA3, FLAD1, COA3, MARS2, COQ2, COQ9, TRMU, MTPAP, DARS2, CARS2, COA7, CYC1, TTC19, TRMT10C, TMEM70, NSUN3, NARS2, C12orf65, FOXRED1, COX20, IBA57, LYRM7, NDUFAF2, COX14, DGUOK, NDUFAF6, COQ5, DLAT, DLD, FASTKD2, DNA2, EARS2, LIPT1, UQCRQ, MTFMT, GFM2, IARS2, ISCU, NDUFAF3, PARS2, TARS2, TMEM126B, TYMP, AFG3L2, ECHS1, COA5, SDHAF1, UQCC3, ETFA, ETFB, ETFDH, PET100, GARS, GFER, HADHA, HADHB, HARS2, HIBCH, KARS, MPV17, NDUFA1, NDUFA10, NDUFA2, NDUFA4, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, OPA1, OPA3, ATP5F1A, ATP5F1E, AIFM1, PDHA1, PDHB, POLG, POLG2, PDP1
Specificity
1 %
Genes
100 %
|
Nuclear encoded Mitochondriopathies Panel.
By CeGaT GmbH (Germany).
RMRP, BCS1L, MRPL3, SACS, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC6A8, BTD , (...)
View the complete list with 260 more genes
RMRP, BCS1L, MRPL3, SACS, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC6A8, BTD, ATL1, SPAST, SPG7, STAR, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, ACO2, TIMM8A, TK2, TSFM, TUFM, UNG, UQCRB, UQCRC2, WFS1, WWOX, YWHAE, GFM1, MRPS16, ELAC2, SLC25A20, HTRA2, SLC25A19, MRPS22, PINK1, PUS1, CHCHD10, LRPPRC, PANK2, NDUFAF5, SAMHD1, GDAP1, APTX, SFXN4, MGME1, COX4I2, SLC19A3, NFU1, PARK7, LIAS, KIF1B, MRPL44, MCEE, COQ8A, MFN2, LARS2, RRM2B, TPK1, SARS2, PDSS1, NAGS, SPART, ATPAF2, NDUFAF1, MMAA, COQ8B, MTO1, MMAB, DDHD1, SLC25A22, CYCS, GLRX5, COQ6, NUBPL, NDUFA11, L2HGDH, CLPP, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, PDHX, LYRM4, RARS2, ACAD9, DIABLO, MPC1, AGK, COX10, COX15, COX6B1, COX7B, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, CRAT, NDUFA12, CISD2, YARS2, TACO1, BOLA3, DMGDH, MARS2, HOGA1, MMADHC, COQ2, COQ9, TMEM126A, TRMU, MTPAP, DARS2, REEP1, CYC1, CEP89, TTC19, SDHAF2, CYP27A1, TMEM70, SLC25A38, C12orf65, FOXRED1, COX20, DBT, IBA57, DECR1, XPNPEP3, NDUFAF2, COX14, D2HGDH, DGUOK, NDUFAF6, DHODH, CYB5R3, DLAT, DLD, FASTKD2, DNA2, EARS2, UQCRQ, MTFMT, DNM1L, ISCU, NDUFAF3, COASY, DNAJC19, FDX2, PNPLA2, TYMP, AFG3L2, COA5, SDHAF1, ERCC6, ETFA, ETFB, ETFDH, FBP1, AK2, FH, FXN, ALAS2, PET100, ALDH4A1, GAMT, GARS, GATM, GCDH, GCK, GCSH, GFER, GK, GLDC, GLUD1, AMACR, AMT, HADH, ABCB7, HSD17B10, HADHA, HADHB, HARS2, HCCS, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HSPD1, IDH1, IDH2, IDH3B, IVD, KARS, KIF5A, MAOA, MCCC1, MCCC2, MLYCD, ALDH6A1, MPV17, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TL1, MT-TL2, MT-TS1, MT-TS2, MMUT, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OAT, OGDH, OPA1, OPA3, ATP5F1A, ATP5F1E, OTC, OXCT1, PRKN, PC, PCCA, PCCB, ACAD8, PCK2, AIFM1, PDHA1, PDHB, PDK3, ACADM, AUH, ACADS, ACADSB, PNKD, POLG, POLG2, ACADVL, PDP1, PPOX, ACAT1, SLC33A1, BCAT2, BCKDHA, BCKDHB
Specificity
1 %
Genes
100 %
|
Developmental Eye Disease panel.
By Molecular Vision Laboratory (United States).
BMP4, SHH, SIX3, SIX6, SLC25A1, SNX3, SOX2, SOX3, ELP4, VAX1, ATOH7, RAB18, ZEB2, CASK, RAB3GAP1, RAB3GAP2, FKRP, MFRP, RAX, NAA10 , (...)
View the complete list with 39 more genes
BMP4, SHH, SIX3, SIX6, SLC25A1, SNX3, SOX2, SOX3, ELP4, VAX1, ATOH7, RAB18, ZEB2, CASK, RAB3GAP1, RAB3GAP2, FKRP, MFRP, RAX, NAA10, POMT2, VSX2, B3GLCT, DCDC1, CHD7, BCOR, COL4A1, COX7B, CRX, TMEM98, CYP1B1, C12orf57, TENM3, STRA6, FKTN, ISPD, FOXC1, FOXC2, FOXE3, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6, HESX1, HMGB3, HMX1, LAMB2, LARGE1, LHX2, MAB21L2, NDP, OTX2, PAX2, PAX6, PITX2, PITX3, POMT1, RARB
Specificity
2 %
Genes
100 %
|
COX7B.
By Fulgent Genetics Fulgent Genetics (United States).
COX7B
Specificity
100 %
Genes
100 %
|
X-chromosome High Resolution microarray analysis.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States).
RP2, RPGR, RPL10, RPS6KA3, RS1, SAT1, SH2D1A, SHOX, SLC16A2, SLC35A2, SLC6A14, SLC6A8, SLC9A6, KDM5C, SMPX, SMS, SOX3, SRY, BTK, CDKL5 , (...)
View the complete list with 140 more genes
RP2, RPGR, RPL10, RPS6KA3, RS1, SAT1, SH2D1A, SHOX, SLC16A2, SLC35A2, SLC6A14, SLC6A8, SLC9A6, KDM5C, SMPX, SMS, SOX3, SRY, BTK, CDKL5, STS, SYN1, SYP, TAF1, TAZ, SERPINA7, TBX22, TIMM8A, TSPAN7, MED12, UBA1, UBE2A, UBQLN2, KDM6A, WAS, XK, ZIC3, ZNF41, ZNF711, ZNF81, FTSJ1, HDAC8, NSDHL, CACNA1F, PCDH19, NLGN4X, NLGN3, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, ZNF674, PORCN, ARX, PHF6, ATP6AP2, TMLHE, ZDHHC9, NAA10, CHM, GPR143, CLCN5, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, COL4A5, VMA21, COX7B, TRAPPC2, CSF2RA, ZC4H2, RAB40AL, OFD1, MAMLD1, CYBB, AMER1, DCX, CCNQ, MAGT1, DKC1, WDR45, DLG3, SHROOM4, DMD, CHRDL1, SRPX2, ALG13, EBP, EDA, EFNB1, EMD, AGTR2, F8, F9, ACSL4, FANCB, FHL1, FLNA, AFF2, ALAS2, G6PD, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GRIA3, AMELX, ABCB7, HSD17B10, HCCS, HCFC1, HPRT1, IDS, IGBP1, AP1S2, XIAP, IGSF1, IKBKG, IL1RAPL1, IL2RG, ABCD1, ANOS1, AR, L1CAM, LAMP2, MAOA, ARHGEF6, MECP2, MID1, ARSE, MTM1, NDP, NHS, NR0B1, OCRL, OPHN1, ATP2B3, OTC, PAK3, ATP7A, AIFM1, PDHA1, ATRX, CFP, PGK1, PHKA1, PHKA2, PIGA, AVPR2, PLP1, POLA1, POU3F4, PQBP1, PRPS1, RBM10
Specificity
1 %
Genes
100 %
|
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.
By Blueprint Genetics (Finland).
BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TFAP2A, ZIC2, PXDN, RAB3GAP1, ADAMTS18, MFRP, RAX, NAA10, GRIP1, FRAS1, VSX2, SMOC1, CHD7 , (...)
View the complete list with 34 more genes
BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TFAP2A, ZIC2, PXDN, RAB3GAP1, ADAMTS18, MFRP, RAX, NAA10, GRIP1, FRAS1, VSX2, SMOC1, CHD7, BCOR, VPS13B, COL4A1, COX7B, FREM1, FREM2, CYP1B1, SMCHD1, TENM3, STRA6, SLC38A8, ERCC2, ERCC5, ERCC6, FOXC1, FOXE3, PRSS56, ALDH1A3, GJA1, ABCB6, HCCS, HESX1, HMX1, MAB21L2, MITF, NDP, OCRL, OTX2, PAX2, PAX6, PITX2, PQBP1, RARB, RBP4
Specificity
2 %
Genes
100 %
|
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL.
By Laboratorio de Genetica Clinica SL (Spain).
SALL1, SALL2, BMP4, SHH, SIX6, SOX2, PXDN, MFRP, RAX, NAA10, VSX2, SMOC1, BCOR, COX7B, CRYBA4, C12orf57, TENM3, STRA6, PRSS56, ALDH1A3 , (...)
View the complete list with 9 more genes
SALL1, SALL2, BMP4, SHH, SIX6, SOX2, PXDN, MFRP, RAX, NAA10, VSX2, SMOC1, BCOR, COX7B, CRYBA4, C12orf57, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6, HCCS, MAB21L2, OTX2, PAX2, PAX6, RARB
Specificity
4 %
Genes
100 %
|
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