Alpha-thalassemia/mental Retardation Syndrome, Chromosome 16-related

Description

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

Genes related to Alpha-thalassemia/mental Retardation Syndrome, Chromosome 16-related

HBA1
HBA2

Clinical Features

Top most frequent phenotypes and symptoms related to Alpha-thalassemia/mental Retardation Syndrome, Chromosome 16-related

Intellectual disability
Seizures
Global developmental delay
Short stature
Pica
Microcephaly
Hypertelorism
Micrognathia
Failure to thrive
Muscular hypotonia

And another 56 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.

Accelerate your rare disease diagnosis with us

Learn more

Alpha-thalassemia/mental Retardation Syndrome, Chromosome 16-related Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...) View the complete list with 139 more genes Panel GTR000553929 complete gene list FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, OCRL, CYP1B1, NPHP1, CLRN1, USH2A, PCDH15, DLD, POLG, SLC25A13, HADHA, FH, SMPD1, MECP2, SLC26A4, CDH23, HPS3, DHDDS, FAH, HMGCL, G6PC, PCCB, PCCA, GLDC, AMT, MPI, ETHE1, MYO7A, OTC, ABCD1, HEXA, ALDH3A2, HEXB, CTSK, PTS, PAH, AGXT, CPT1A, CHAT, SGSH, DBT, MAN2B1, GALC, IVD, SLC25A15, CBS, GCDH, GALT, LRPPRC, ASS1, CYP27A1, SLC22A5, PMM2, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, ADA, AGA, IL2RG, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GJB6, IDUA, NPC1, RMRP, SMN1, ATM, NBN, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, G6PD, HBA2, NEB, CTNS, CYBB, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, BTK, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PLA2G6, PKHD1, RAPSN, TGM1, DPYD, TMEM216 Specificity 2 % Genes 100 %
GeneAware Complete Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...) View the complete list with 129 more genes Panel GTR000553930 complete gene list UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, NPHP1, CLRN1, USH2A, PCDH15, DLD, POLG, SLC25A13, HADHA, FH, SMPD1, SLC26A4, CDH23, HPS3, DHDDS, FAH, HMGCL, G6PC, PCCB, PCCA, GLDC, AMT, MPI, ETHE1, MYO7A, HEXA, ALDH3A2, HEXB, CTSK, PTS, PAH, AGXT, CPT1A, CHAT, SGSH, DBT, MAN2B1, GALC, IVD, SLC25A15, CBS, GCDH, GALT, LRPPRC, ASS1, CYP27A1, SLC22A5, PMM2, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, ADA, AGA, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, GJB6, IDUA, NPC1, RMRP, SMN1, ATM, NBN, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, HBA2, NEB, CTNS, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PLA2G6, PKHD1, RAPSN, TGM1, DPYD, TMEM216 Specificity 2 % Genes 100 %
GeneAware Basic Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. FMR1, HBB, CFTR, DMD, SMN1, HBA1, HBA2 Specificity 29 % Genes 100 %
GeneAware Basic Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. HBB, CFTR, SMN1, HBA1, HBA2 Specificity 40 % Genes 100 %
GeneAware ACMG/ACOG Panel Version 2 (Male). By Baylor Miraca Genetics Laboratories in United States. HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, HBA2, MCOLN1 Specificity 16 % Genes 100 %
GeneAware ACMG/ACOG Panel Version 2 (Female). By Baylor Miraca Genetics Laboratories in United States. FMR1, HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DMD, SMN1, HBA1, HBA2, MCOLN1 Specificity 14 % Genes 100 %
Alpha Globin Gene Sequencing. By UCSF Molecular Diagnostics Laboratory University of California, San Francisco in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha Thalassemia. By UCSF Molecular Diagnostics Laboratory University of California, San Francisco in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha Thalassemia deletions. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha-Thalassemia, DNA Analysis. By Molecular Diagnostic Laboratory LabCorp in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
HBA1/HBA2 and HBB Mutation Analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. HBB, HBA1, HBA2 Specificity 67 % Genes 100 %
Hypospadias Sequencing Panel. By Genetic Services Laboratory University of Chicago in United States. WT1, HNF1B, PITX2, MKKS, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, SOX2, FGFR3, AR, ARX, CREBBP, DHCR7, PTPN11, FGFR2, CDKN1C, GPC3, HBA1 , (...) View the complete list with 41 more genes Panel GTR000531740 complete gene list WT1, HNF1B, PITX2, MKKS, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, SOX2, FGFR3, AR, ARX, CREBBP, DHCR7, PTPN11, FGFR2, CDKN1C, GPC3, HBA1, PEX1, FIG4, FGFR1, FLNA, ATRX, SETBP1, ZEB2, SALL1, MID1, MED12, FAT4, WDR35, PCNT, GLI3, TP63, FBXL4, NR5A1, FGF10, SRD5A2, EFNB1, EVC, EVC2, RBBP8, BMP4, B3GLCT, EPG5, UBR1, GRIP1, ESCO2, FREM2, HOXA13, DNMT3B, WNT7A, MAP3K1, FRAS1, IRF6, SPECC1L, MAMLD1, CUL7, PDE4D, PTDSS1 Specificity 2 % Genes 50 %
Alpha Globin (HBA1 and HBA2) Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha Thalassemia (HBA1 and HBA2) 7 Deletions. By ARUP Laboratories, Molecular Genetics and Genomics in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha Globin (HBA1 and HBA2) Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Hemoglobin Evaluation Reflexive Cascade. By ARUP Laboratories, Molecular Genetics and Genomics in United States. HBB, HBA1, HBA2 Specificity 67 % Genes 100 %
Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
HBA. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. HBA1 Specificity 100 % Genes 50 %
HBA1, HBA2. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha thalassemia. By Molecular Diagnostics Laboratory Hospital Sainte-Justine in Canada. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha Thalassemia - HBA Deletion/Duplication Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha Thalassemia - HBA Sequence Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha Thalassemia - HBA Known Point Mutation Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha-thalassemia (deletion/duplication analysis of HBA1 and HBA2 genes). By CGC Genetics in Portugal. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha-thalassemia (sequence analysis of HBA1 and HBA2 genes). By CGC Genetics in Portugal. HBA1, HBA2 Specificity 100 % Genes 100 %
Hemoglobinopathies (sequence analysis of HBA1, HBA2 and HBB genes). By CGC Genetics in Portugal. HBB, HBA1, HBA2 Specificity 67 % Genes 100 %
alpha thalassemai. By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India. HBA1, HBA2 Specificity 100 % Genes 100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...) View the complete list with 186 more genes Panel GTR000553215 complete gene list HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1, WWOX, FGFR3, AIRE, AR, ARX, CFTR, CHD7, CREBBP, DHCR7, EIF2B1, LEP, LEPR, PCSK1, PTPN11, SOS1, SRY, FGFR2, CDKN1C, GPC3, HBA1, PROP1, PEX1, EIF2B5, FIG4, LMNA, EIF2B3, EIF2B2, EIF2B4, NR0B1, GNRH1, FGFR1, LHCGR, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, FLNA, ATRX, OPHN1, SETBP1, ZEB2, SALL1, CLPP, SOX10, SEMA3E, MID1, MED12, FAT4, WDR35, SOX3, POR, SOX9, PCNT, GLI3, TP63, DNAH1, FBXL4, RIPK4, SYCP3, NR5A1, FGF10, ADGRG2, HSD17B3, LHX4, LHX3, SRD5A2, EFNB1, GATA4, CEP41, EVC, EVC2, RBBP8, DHCR24, BMP4, B3GLCT, EPG5, UBR1, WNT5A, CYP19A1, DYNC2H1, GRIP1, ESCO2, FREM2, HOXA13, IL17RD, DHH, DNMT3B, ROR2, SEMA3A, TBX15, WNT4, WNT7A, TSPYL1, CCNQ, ZFPM2, MAP3K1, NSMF, RSPO1, FRAS1, IRF6, ICK, FEZF1, NEK1, SPECC1L, WDR60, MCM8, HFM1, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, MAMLD1, AMH, AMHR2, LHB, FSHB, FGF17, WDR11, TAC3, CUL7, PDE4D, PTDSS1, KISS1, TRAIP, TWIST2, NR3C1, SPATA16, PICK1, AURKC, NANOS1, CATSPER1, FLRT3, DUSP6, SPRY4, HS6ST1, NUP107, ZP1, MCM9, BMP7, HOXB6, HOXA4, AXL, CCDC141, SYCE1, DMRT1, DMRT2, SOHLH1, PADI6, PRLR, STAG3, AKR1C4, CBX2, BRDT, CFAP44, CFAP43, INSL3, KLHL10, PLCZ1, TAF4B, NPAS2, SEPT12, SLC26A8, TEX11, SUN5, ZMYND15, GALNTL5, HHAT, BNC2, ATF3, TOE1, CHD4 Specificity 1 % Genes 50 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...) View the complete list with 138 more genes Panel GTR000553216 complete gene list HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1, WWOX, FGFR3, AR, ARX, CHD7, CREBBP, DHCR7, LEP, LEPR, PCSK1, PTPN11, SOS1, SRY, FGFR2, CDKN1C, GPC3, HBA1, PROP1, PEX1, FIG4, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, ANOS1, FLNA, ATRX, OPHN1, SETBP1, ZEB2, SALL1, SOX10, MID1, MED12, FAT4, WDR35, SOX3, POR, SOX9, PCNT, GLI3, TP63, FBXL4, RIPK4, NR5A1, FGF10, HSD17B3, LHX4, LHX3, SRD5A2, EFNB1, GATA4, CEP41, EVC, EVC2, RBBP8, DHCR24, BMP4, B3GLCT, EPG5, UBR1, WNT5A, CYP19A1, DYNC2H1, GRIP1, ESCO2, FREM2, HOXA13, IL17RD, DHH, DNMT3B, ROR2, SEMA3A, TBX15, WNT4, WNT7A, TSPYL1, CCNQ, ZFPM2, MAP3K1, NSMF, RSPO1, FRAS1, IRF6, ICK, FEZF1, NEK1, SPECC1L, WDR60, PSMC3IP, BMP15, FSHR, MAMLD1, AMH, AMHR2, LHB, FSHB, WDR11, TAC3, CUL7, PDE4D, PTDSS1, KISS1, TRAIP, TWIST2, NR3C1, HS6ST1, MCM9, BMP7, HOXB6, HOXA4, DMRT1, DMRT2, AKR1C4, CBX2, INSL3, HHAT, BNC2, ATF3, TOE1, CHD4 Specificity 1 % Genes 50 %
Alpha Thalassemia Deletion/Duplication and Constant Spring Panel. By PreventionGenetics PreventionGenetics in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha Thalassemia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha thalassemia HBA1-HBA2. By MGZ Medical Genetics Center in Germany. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha Thalassemia. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha Thalassemia. By GeneTech ATS GeneTech Private Limited in India. HBA1 Specificity 100 % Genes 50 %
Thalassemia, alpha. By Centogene AG - the Rare Disease Company in Germany. HBA1 Specificity 100 % Genes 50 %
alpha Thalassemia. By bio.logis Center for Human Genetics Diagnosticum in Germany. HBB, HBA1, HBA2 Specificity 67 % Genes 100 %
Erythrocytes, Anemia Panel. By CeGaT GmbH in Germany. HFE, HBB, AMN, COX4I2, RPL35A, CUBN, GIF, RPS19, HBA1, G6PD, HBA2, KIF23, KLF1, RPS26, RPS10, RPL11, RPL5, RPS17, RPS24, CDAN1 , (...) View the complete list with 13 more genes Panel GTR000528900 complete gene list HFE, HBB, AMN, COX4I2, RPL35A, CUBN, GIF, RPS19, HBA1, G6PD, HBA2, KIF23, KLF1, RPS26, RPS10, RPL11, RPL5, RPS17, RPS24, CDAN1, SEC23B, SH2B3, RPS7, SPTB, SPTA1, ANK1, EPB42, C15orf41, LPIN2, HBD, EPOR, EPAS1, EGLN1 Specificity 7 % Genes 100 %
Alpha-Thalassemia (HBA1/HBA2). By MVZ Dortmund Dr. Eberhard & Partner in Germany. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha-Thalassemia. By Asper Biogene Asper Biogene LLC in Estonia. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha globin gene sequencing. By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Capillary Zone Electrophoresis (Sebia). By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States. HBB, HBA1, HBA2, HBD Specificity 50 % Genes 100 %
Cellulose Acetate Electrophoresis. By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States. HBB, HBA1, HBA2 Specificity 67 % Genes 100 %
Multiplex Gap PCR for alpha thalassemia deletions. By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
MLPA (Multiplex Ligation-Dependent Probe Amplification) for α-Globin cluster. By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States. HBA1, HBE1, HBZ Specificity 34 % Genes 50 %
Alpha Globin gene Triplication. By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha-Thalassemia (HBA). By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha-Thalassemia. By Praxis fuer Humangenetik Wien in Austria. HBA1 Specificity 100 % Genes 50 %
Alpha-thalassaemia gene mapping. By Molecular Diagnosis Centre National University Hospital in Singapore. HBA1, HBA2 Specificity 100 % Genes 100 %
Family Prep Screen. By Counsyl in United States. F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...) View the complete list with 90 more genes Panel GTR000552033 complete gene list F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4, CPT2, GNE, CNGB3, CLRN1, PCDH15, DLD, HADHA, OPA3, SMPD1, SLC26A4, RS1, FAH, G6PC, MPI, HEXA, ALDH3A2, CTSK, PAH, AGXT, CPT1A, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, TPP1, CLN3, AGA, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, IDUA, NPC1, RMRP, SMN1, ATM, NBN, CLN8, HBA1, LAMB3, FKTN, HBA2, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, TTPA, ABCC8, CLN5, LAMC2, PKHD1, DPYD, TMEM216, CYP21A2, VPS13B, MEFV, F11, HGD, BCHE Specificity 2 % Genes 100 %
qCarrier Plus. By Quantitative Genomic Medicine Laboratories, SL in Spain. F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...) View the complete list with 280 more genes Panel GTR000552567 complete gene list F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, RAX, TYRP1, SLC45A2, TYR, GPR143, MTRR, CPS1, CPT2, GNPTAB, GLB1, OCRL, ABCA4, NDP, CNGB3, TMEM67, NPHP1, CEP290, CLRN1, USH2A, PCDH15, DLD, SLC25A13, PANK2, HADHA, FH, TULP1, RPGR, RPE65, GUCY2D, CRB1, MECP2, SLC26A4, WHRN, CDH23, IDH3B, ACSF3, PDHB, DHDDS, PDE6A, CNGB1, RS1, FAH, HMGCL, TAT, G6PC, CNGA1, RDH12, SUCLA2, P3H1, HAX1, TUFM, TSFM, CTSD, ACADSB, CERKL, SPG7, PCCB, GLDC, AMT, EYS, ETHE1, MYO7A, AGPS, RP2, OTC, ACSL4, ABCD1, MMADHC, LMBRD1, HEXA, HEXB, ACOX1, PTS, PAH, AGXT, SURF1, CPT1A, GALNS, GNS, HGSNAT, NAGLU, SGSH, MCEE, MMAB, MUT, DBT, MAN2B1, MLYCD, SUCLG1, GALC, IVD, ALDH4A1, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, CYP17A1, SLC6A8, NR2E3, ABCD4, ADA, AGA, AHCY, ARSB, GNMT, IL2RG, AIRE, AR, ARSA, ASPA, ARX, CFTR, FANCC, GBA, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LDLR, LIPA, NPC1, NPC2, PLOD1, PLP1, POU3F4, RMRP, SMN1, ATM, NBN, CLN6, CLN8, HBA1, LAMB3, FKTN, G6PD, NEB, CTNS, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, UGT1A1, TH, GRHPR, MCOLN1, MPL, PEX1, TTPA, CAPN3, CLN5, LAMC2, PKHD1, TMEM216, NDRG1, SH3TC2, MTMR2, GDAP1, ZFYVE26, SPG11, AHI1, CLCN1, FKRP, DYSF, KCNJ11, GNRHR, CYP21A2, COL4A4, BSND, L1CAM, SPART, TNNT1, POMT2, POMT1, DCX, PQBP1, MFSD8, ATRX, IQSEC2, FGD1, GRIA3, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, OTOF, POLR1C, STRC, SLC4A11, TMPRSS3, PRPS1, TMC1, GJB3, PEX6, TMIE, TRIOBP, TPRN, AP1S2, NLGN4X, PEX10, MVK, PHF8, HUWE1, AFF2, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, BRWD3, SLC16A2, IL1RAPL1, THOC2, TRDN, CASQ2, CHST6, DNAH5, PGK1, F11, THRB, JAK3, F9, F8, FANCA, ARL13B, EVC2, SLC46A1, PCBD1, LDLRAP1, CD40LG, SLC39A4, COL7A1, TFR2, HOGA1, HJV, PAX8, DUOXA2, DUOX2, SLC5A5, TPO, SLC6A19, WNT10A, HGD, HAL, CTH, ADK, FTCD, MPP3 Specificity 1 % Genes 50 %
Alpha-Thalassemia. By MedGene in Slovakia. HBA1 Specificity 100 % Genes 50 %
Alfa Thalassemia: Deletion analysis (a3.7, a4.2, a20.5, aSEA, aFIL and aMED). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. HBA1, HBA2 Specificity 100 % Genes 100 %
Alfa Thalassemia: HBA1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. HBA1 Specificity 100 % Genes 50 %
Alpha-Thalassemia: HBA1 and HBA2 Deletion Analysis. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...) View the complete list with 127 more genes Panel GTR000523283 complete gene list FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, CNGB3, CLRN1, PCDH15, DLD, PANK2, HADHA, OPA3, FH, SMPD1, MECP2, SLC26A4, RS1, FAH, G6PC, MPI, OTC, HEXA, ALDH3A2, HEXB, CTSK, PAH, AGXT, CPT1A, GUSB, GALNS, NAGLU, SGSH, MMAB, MMAA, MUT, DBT, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, ASL, TPP1, CLN3, AGA, ARSB, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GJB6, GLA, IDS, IDUA, RMRP, SMN1, ATM, NBN, CLN8, HBA1, LAMB3, FKTN, G6PD, HBA2, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, TTPA, ABCC8, CAPN3, CLN5, LAMC2, PKHD1, DPYD, TMEM216, GHRHR, CYP21A2, VPS13B, SLC19A2, CTSC, MEFV, F11, VWF, F9, GP1BB, TTC37, GP9, WRN, WISP3, EDAR, NLRP7, LIPH, HMOX1 Specificity 2 % Genes 100 %
HBA1. By Fulgent Genetics Fulgent Genetics in United States. HBA1 Specificity 100 % Genes 50 %
Alpha-Globin Common Mutation Analysis. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha-Globin Common Mutation Analysis (NY). By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha-Globin Gene Deletion or Duplication (NY). By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha-Globin Gene Sequencing. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha-Globin Gene Deletion or Duplication. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha-Globin Gene Sequencing (NY). By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. HBA1, HBA2 Specificity 100 % Genes 100 %
Comprehensive Hematology Panel. By Blueprint Genetics in Finland. BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...) View the complete list with 219 more genes Panel GTR000552666 complete gene list BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2, MTR, TYR, SLC37A4, GPR143, CLCN7, DTNBP1, ALAS2, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, GPI, RPL35A, CYCS, HAX1, AP3B1, PUS1, PDHA1, ABCB7, TCN2, AK2, NT5C3A, CUBN, CYB5R3, SLC25A38, ANKRD26, PDHX, FANCC, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RPS19, SOS1, TINF2, RIT1, MAP2K2, CBL, ATM, NBN, PALB2, CDKN2A, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, RAD51C, HBA1, G6PD, HBA2, MPL, RTEL1, WAS, NF1, FLNA, ATRX, VPS13B, ACTB, SLC19A2, MYH9, PIEZO1, GATA1, KLF1, RPS26, RPS10, RPL11, RPL5, RPS24, PKLR, CDAN1, SEC23B, MAGT1, FANCB, DKC1, ATR, CTSC, BLOC1S6, LYST, TERC, TERT, PARN, CSF2RA, ABCA3, SFTPC, SFTPB, SH2D1A, F11, VWF, THBD, CTC1, WRAP53, NHP2, NOP10, F9, F8, ADAMTS13, FANCA, FANCG, FANCF, FANCE, ABCG5, ABCG8, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, SRP72, THPO, RPS7, USB1, SLC46A1, GP1BA, FGA, FGB, GGCX, MYO5A, RAB27A, TBXA2R, FGG, P2RY12, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, JAK2, IKZF1, ETV6, CSF3R, IFNGR2, SLC4A1, GP1BB, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, STXBP2, ITK, RPL15, G6PC3, VPS45, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4, EPB41, SPTB, SPTA1, ANK1, EPB42, RHAG, TPI1, GSS, C15orf41, LPIN2, PROS1, FADD, WIPF1, PROC, JAGN1, VKORC1, F7, ACD, EPOR, PGM3, EPAS1, DNAJC21, SAMD9, SAMD9L, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, REN, DDX41, EGLN1, CLPB, RNF168, TRNT1, F10, F12, TF, F13A1, DHFR, SERPINC1, F13B, TMPRSS6, MECOM, RPS29, MCFD2, LMAN1, WDR1, SMARCD2, AP3D1, MTHFD1, ERCC6L2, DCLRE1B, GINS1, MRTFA, ARPC1B Specificity 1 % Genes 100 %
Anemia Panel. By Blueprint Genetics in Finland. BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX , (...) View the complete list with 58 more genes Panel GTR000552629 complete gene list BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX, FANCC, BLM, RPS19, ATM, NBN, PALB2, BRIP1, SBDS, RAD51C, HBA1, G6PD, HBA2, ATRX, SLC19A2, PIEZO1, GATA1, KLF1, RPS26, RPS10, RPL11, RPL5, RPS24, PKLR, CDAN1, SEC23B, FANCB, ATR, THBD, ADAMTS13, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, RPS7, SLC4A1, RPL15, SPTB, SPTA1, ANK1, EPB42, RHAG, TPI1, GSS, C15orf41, LPIN2, DNAJC21, REN, TF, DHFR, TMPRSS6, RPS29 Specificity 3 % Genes 100 %
Alpha-Thalassemia Deletions. By Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran. HBA1 Specificity 100 % Genes 50 %
Alpha-thalassemia. By Bioarray in Spain. HBA1 Specificity 100 % Genes 50 %
Alpha thalassemia - intellectual deficit syndrome linked to chromosome 16. By Bioarray in Spain. HBA1 Specificity 100 % Genes 50 %
CarrierMap. By Recombine in United States. FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...) View the complete list with 281 more genes Panel GTR000528277 complete gene list FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYRP1, STAR, SLC45A2, CHM, TYR, SLC37A4, ABCA12, HSD17B4, CPT2, TRMU, GNPTAB, GLB1, GNE, OCRL, ABCA4, CYP1B1, CEP290, CLRN1, TRIM32, USH2A, PCDH15, DLD, POLG, CYP11B1, SLC25A13, HADHA, OPA3, FH, RPE65, RLBP1, GUCY2D, SMPD1, CYP11B2, SLC26A4, CDH23, HPS1, PDHB, HPS4, HPS3, DHDDS, RS1, FAH, HMGCL, HSD3B2, FAM161A, TAT, G6PC, GAMT, RDH12, RARS2, HAX1, HADHB, CERKL, PCCB, PCCA, GLDC, AMT, LCA5, ALG6, TYMP, MPI, ETHE1, MYO7A, PUS1, OTC, PDHA1, ABCD1, HEXA, ALDH3A2, HEXB, CTSK, ACOX1, PTS, PAH, AGXT, TCIRG1, MPV17, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFS6, MMAB, MMAA, MUT, DBT, MAN2B1, MLYCD, GALC, IVD, SLC25A15, CBS, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALK1, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, BBS12, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CYP17A1, NR2E3, ADA, AGA, ARSB, IL2RG, AIRE, AR, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LIPA, NPC1, NPC2, RMRP, SMN1, ATM, NBN, BRIP1, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, G6PD, HBA2, NEB, CTNS, CYBB, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PKHD1, RAPSN, TGM1, TMEM216, GJB1, NTRK1, FKRP, DYSF, LHCGR, KCNJ11, CYP21A2, COL4A4, SLC12A3, BSND, COL4A5, MTM1, VRK1, EMD, SGCD, TSEN54, MFSD8, VPS13B, VPS13A, ATP6V1B1, MYO15A, SLC4A11, PRPS1, PEX6, LOXHD1, PEX10, CHRNG, RAB23, POR, EXOSC3, CTSC, LYST, DNAI2, DNAI1, ERCC6, TECPR2, MEFV, SRD5A2, F9, F8, FANCA, FANCG, EVC, EVC2, LPL, EIF2AK3, VSX2, RAG2, ERCC8, SLC39A4, COL7A1, CIITA, EDA, TTC37, TFR2, HOGA1, HJV, CYP19A1, AMH, AMHR2, ASNS, MED17, SEPSECS, WRN, XPA, LIFR, SLC7A9, XPC, GDF5, HGD, BCHE, SLC26A3, VPS53 Specificity 1 % Genes 100 %
Baby Genes Targeted Panel. By Baby Genes Inc. Baby Genes Inc. in United States. MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...) View the complete list with 70 more genes Panel GTR000522527 complete gene list MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13, HADHA, SMPD1, SLC26A4, FAH, HMGCL, TAT, G6PC, ACAD8, ACADSB, HADHB, PCCB, PCCA, OTC, TAZ, ABCD1, MMADHC, TCN2, HEXA, PAH, CPT1A, MCEE, MMAB, MMAA, MUT, DBT, MLYCD, GALC, IVD, CBS, ETFB, ETFA, ETFDH, GCDH, GALT, GALK1, ASS1, SLC22A5, SLC25A20, ASL, ADA, AHCY, GNMT, HPD, IL2RG, TSHR, ELP1, CFTR, GBA, BLM, GJB2, GJB6, GLA, IDUA, NPC1, NPC2, HBA1, G6PD, HBA2, GCH1, CYP21A2, GJB3, MAT1A, PCBD1, HADH, PAX8, TSHB, DUOX2, SLC5A5, TPO, TG Specificity 3 % Genes 100 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test. By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan. HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1 , (...) View the complete list with 53 more genes Panel GTR000558423 complete gene list HFE, ABCB11, ABCB4, ATP7B, ATP8B1, BCS1L, TWNK, INVS, HBB, HNF1B, AMACR, JAG1, POLG, RRM2B, SLC25A13, DGUOK, MPV17, SUCLG1, ASS1, CYP27A1, ASL, CFTR, LIPA, NPC1, NPC2, HBA1, G6PD, HBA2, SERPINA1, UGT1A1, PKHD1, PKD2, PKD1, CYP7B1, DCDC2, TJP2, ABCB1, TFAM, FTL, AKR1D1, SCO1, VPS33B, BAAT, SLC40A1, ABCC2, TFR2, PRKCSH, HAMP, HJV, CLDN1, EPHX1, SLC10A1, NOTCH2, HSD3B7, SLCO1B1, SLCO1B3, SEC63, CYP7A1, COPA, NR1H4, MYO5B, CD14, FOXM1, CHMP5, SLC51A, SLC51B, SLCO1A2, SLCO2B1, ABCC3, ABCC4, HES1, ONECUT1, FGF19 Specificity 3 % Genes 100 %
Alpha-Thalassemia Deletions. By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences in Iran. HBA1 Specificity 100 % Genes 50 %
ALPHA-THALASSEMIA. By Laboratorio de Genetica Clinica SL in Spain. HBA1, HBA2 Specificity 100 % Genes 100 %
Alpha Thalassemia, Sequencing HBA1 Gene. By Reference Laboratory Genetics in Spain. HBA1 Specificity 100 % Genes 50 %
Alpha Thalassemia. By Labor Dr. Wisplinghoff in Germany. HBA1, HBA2 Specificity 100 % Genes 100 %
planTrue Extended. By True Health Diagnostics in United States. FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...) View the complete list with 61 more genes Panel GTR000561192 complete gene list FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1, SLC26A4, CDH23, RS1, FAH, G6PC, MYO7A, ABCD1, HEXA, ALDH3A2, HEXB, CYP27B1, PAH, CBS, GCDH, GALT, LRPPRC, SLC22A5, PMM2, MKS1, BBS1, TPP1, AGA, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, NPC1, RMRP, SMN1, ATM, HBA1, FKTN, HBA2, NEB, CTNS, PROP1, PPT1, SLC26A2, MCOLN1, POMGNT1, SLC17A5, TTPA, WAS, ABCC8, CLN5, PKHD1, DPYD, TMEM216, KCNJ11, CYP21A2, TNNT1, MEFV, F11, HGD Specificity 3 % Genes 100 %
planTrue ACOG & ACMG Screen. By True Health Diagnostics in United States. HBB, SMPD1, HEXA, HEXB, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, HBA2, MCOLN1 Specificity 15 % Genes 100 %
planTrue Standard. By True Health Diagnostics in United States. BCKDHB, HBB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, HEXB, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, FKTN, HBA2, NEB , (...) View the complete list with 3 more genes Panel GTR000561245 complete gene list BCKDHB, HBB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, HEXB, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, FKTN, HBA2, NEB, MCOLN1, ABCC8, TMEM216 Specificity 9 % Genes 100 %
Sickle cell disease & Thalassemia: gene sequencing panel (RAPID testing). By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. HBB, HBA1, HBA2 Specificity 67 % Genes 100 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...) View the complete list with 79 more genes Panel GTR000559573 complete gene list MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10, DLD, SLC25A13, HADHA, OPA3, SMPD1, SLC26A4, ACSF3, FAH, HMGCL, TAT, G6PC, ACAD8, DNAJC19, ACADSB, HADHB, PCCB, PCCA, OTC, TAZ, ABCD1, MMADHC, TCN2, HEXA, PTS, QDPR, PAH, CPT1A, MCEE, MMAB, MMAA, MUT, DBT, MLYCD, GALC, IVD, CBS, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, ASS1, SLC22A5, SLC25A20, ASL, ABCD4, ADA, AHCY, GNMT, HPD, IL2RG, ASPA, ELP1, CFTR, GBA, BLM, GJB2, GJB6, GLA, IDUA, NPC1, NPC2, HBA1, G6PD, HBA2, MCOLN1, GCH1, CYP21A2, GJB3, HCFC1, CD320, MAT1A, PCBD1, HADH, PAX8, DUOX2, SLC5A5 Specificity 3 % Genes 100 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...) View the complete list with 84 more genes Panel GTR000559572 complete gene list MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10, DLD, SLC25A13, HADHA, OPA3, SMPD1, SLC26A4, ACSF3, FAH, HMGCL, TAT, G6PC, ACAD8, DNAJC19, ACADSB, HADHB, PCCB, PCCA, OTC, TAZ, MMADHC, TCN2, HEXA, PTS, QDPR, PAH, CPT1A, MCEE, MMAB, MMAA, MUT, DBT, MLYCD, GALC, IVD, CBS, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, ASS1, SLC22A5, SLC25A20, ASL, ABCD4, ADA, AHCY, GNMT, HPD, IL2RG, TSHR, ASPA, ELP1, CFTR, GBA, BLM, GJB2, GJB6, GLA, IDUA, NPC1, NPC2, HBA1, G6PD, HBA2, MCOLN1, GCH1, CYP21A2, GJB3, HCFC1, THRB, CD320, MAT1A, PCBD1, HADH, PAX8, TSHB, THRA, DUOX2, SLC5A5, TPO, TG Specificity 2 % Genes 100 %
Alpha thalassemia: Full gene panel sequencing (Rapid testing). By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. HBA1, HBA2 Specificity 100 % Genes 100 %
Hb H (3 gene deletion): Full gene panel sequencing (Rapid testing). By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. HBA1, HBA2 Specificity 100 % Genes 100 %
Hb Barts: Full gene panel sequencing (Rapid testing). By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. HBA1, HBA2 Specificity 100 % Genes 100 %
Hb H/Constant Spring disease : Full gene panel sequencing (Rapid testing). By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. HBA1, HBA2 Specificity 100 % Genes 100 %
Thalassemia, alpha. By Centogene AG - the Rare Disease Company in Germany. HBA2 Specificity 100 % Genes 50 %
Alfa Thalassemia: HBA2 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. HBA2 Specificity 100 % Genes 50 %
Alpha Thalassemia, Sequencing HBA2 Gene. By Reference Laboratory Genetics in Spain. HBA2 Specificity 100 % Genes 50 %

Alternate names

Alpha-thalassemia/mental Retardation Syndrome, Chromosome 16-related Is also known as alpha-thalassemia/mental retardation syndrome, deletion-type, atr-16 syndrome, atr, deletion-type, hemoglobin h-related mental retardation;hbhr, mental retardation with hemoglobin h, chromosome 16p deletion syndrome;atr syndrome linked to chromosome 16; atr syndrome, deletion type; atr-16 syndrome; alpha thalassemia-intellectual disability syndrome, deletion type; alpha thalassemia-mental retardation syndrome.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA PALLISTER-HALL SYNDROME FOVEAL HYPOPLASIA 1; FVH1 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT MESOMELIC DYSPLASIA, KANTAPUTRA TYPE; MMDK