22q11.2 Deletion Syndrome

Description

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

Clinical Features

Top most frequent phenotypes and symptoms related to 22q11.2 Deletion Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Strabismus
And another 120 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available 22q11.2 Deletion Syndrome have a estimated birth prevalence of 37.5 per 100k in Europe.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

22q11.2 Deletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
12 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc in United States.

ATP6V0A2, HPRT1, ADGRV1, PANK2, RAI1, TSC2, SYNGAP1, SMC3, TSC1, NIPBL, PLA2G6, KCNA1, LGI1, KMT2D, MAGI2, KANSL1, ROGDI, PIGA, PIGN, PIGV , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
12 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 151 more genes
Specificity
1 %
Genes
12 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
12 %
Congenital Heart Disease Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TBX1, NKX2-5, TBX5
Specificity
34 %
Genes
12 %
Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ADA, IL2RG, PNP, RMRP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1
Specificity
5 %
Genes
12 %
TBX1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TBX1
Specificity
100 %
Genes
12 %
Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ADA, IL2RG, PNP, RMRP, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1
Specificity
6 %
Genes
12 %
TBX1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TBX1
Specificity
100 %
Genes
12 %
Hypoparathyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

HADHA, CYP24A1, HADHB, AIRE, CHD7, PRKAR1A, CASR, TBX1, GATA3, GNAS, GNA11, PDE4D, STX16, PTH, GCM2, FAM111A, TBCE
Specificity
6 %
Genes
12 %
Hypoparathyroidism sequencing panel.

By Genetic Services Laboratory University of Chicago in United States.

HADHA, CYP24A1, HADHB, AIRE, PRKAR1A, CASR, TBX1, GATA3, GNAS, GNA11, PDE4D, STX16, PTH, GCM2, FAM111A, TBCE, CDH7
Specificity
6 %
Genes
12 %
TBX1 Gene Sequencing.

By GeneDx in United States.

TBX1
Specificity
100 %
Genes
12 %
CardioNext with TTN.

By Ambry Genetics in United States.

TTR, EYA4, JAG1, DSP, CRYAB, RAF1, TAZ, FXN, DMD, GLA, PTPN11, FKTN, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, MYBPC3 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
12 %
CustomNext: Cardio.

By Ambry Genetics in United States.

TTR, COL3A1, EYA4, JAG1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, FXN, COL5A1, COL5A2, DMD, GLA, PLOD1, PTPN11, SMAD4, FKTN, LMNA , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
12 %
TBX1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TBX1
Specificity
100 %
Genes
12 %
Severe combined immunodeficiency Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ADA, IL2RG, PNP, CHD7, IKBKG, ATM, DCLRE1C, WAS, TBX1, DOCK8, JAK3, IL7R, RAG2, RAG1, NHEJ1, LIG4, FOXN1, PRKDC
Specificity
6 %
Genes
12 %
Severe combined immunodeficency Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ADA, IL2RG, PNP, CHD7, IKBKG, ATM, DCLRE1C, WAS, TBX1, DOCK8, JAK3, IL7R, RAG2, RAG1, NHEJ1, LIG4, FOXN1, PRKDC
Specificity
6 %
Genes
12 %
Severe combined immunodeficiency Del/dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ADA, IL2RG, PNP, CHD7, IKBKG, ATM, DCLRE1C, WAS, TBX1, DOCK8, JAK3, IL7R, RAG2, RAG1, NHEJ1, LIG4, FOXN1, PRKDC
Specificity
6 %
Genes
12 %
DiGeorge syndrome (sequence analysis of TBX1 gene).

By CGC Genetics in Portugal.

TBX1
Specificity
100 %
Genes
12 %
DiGeorge syndrome (deletion/duplication analysis of TBX1 gene).

By CGC Genetics in Portugal.

TBX1
Specificity
100 %
Genes
12 %
Congenital heart disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ELN, JAG1, CHD7, TBX1, NOTCH1, NKX2-5, TBX5, GDF1, GATA4, GATA6, NOTCH2, TBX20, TAB2, NR2F2, NKX2-6
Specificity
7 %
Genes
12 %
Congenital heart disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ELN, JAG1, CHD7, TBX1, NOTCH1, NKX2-5, TBX5, GDF1, GATA4, GATA6, NOTCH2, TBX20, TAB2, NR2F2, NKX2-6
Specificity
7 %
Genes
12 %
Congenital heart disease NGS panel.

By Connective Tissue Gene Tests in United States.

ELN, JAG1, CHD7, TBX1, NOTCH1, NKX2-5, TBX5, GDF1, GATA4, GATA6, NOTCH2, TBX20, TAB2, NR2F2, NKX2-6
Specificity
7 %
Genes
12 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
12 %
TBX1.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

TBX1
Specificity
100 %
Genes
12 %
Severe combined immunodeficiency (SCID) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

AK2, ADA, IL2RG, PNP, DCLRE1C, TBX1, DOCK8, JAK3, STIM1, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
12 %
B-positive SCID panel.

By Centogene AG - the Rare Disease Company in Germany.

IL2RG, PNP, RMRP, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, ZAP70, STAT5B, PTPRC, ORAI1, FOXN1, CD247
Specificity
7 %
Genes
12 %
Comprehensive SCID panel.

By Centogene AG - the Rare Disease Company in Germany.

AK2, ADA, IL2RG, PNP, RMRP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, RAC2, NHEJ1, LIG4, STAT5B, PTPRC , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
12 %
DiGeorge syndrome.

By Centogene AG - the Rare Disease Company in Germany.

TBX1
Specificity
100 %
Genes
12 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
12 %
Congenital heart defects panel.

By Centogene AG - the Rare Disease Company in Germany.

TBX1, FOXH1, NOTCH1, NKX2-5, GDF1, GATA4, CITED2, CRELD1, GATA6, CFC1, ZFPM2, TBX20
Specificity
9 %
Genes
12 %
Congenital Heart Defects Panel.

By CeGaT GmbH in Germany.

ELN, FOXC1, PITX2, JAG1, CHD7, MYH7, FLNA, TBX1, SEMA3E, RBM10, NODAL, FOXH1, NOTCH1, ACTC1, NKX2-5, MYH6, TBX5, GJA1, SMAD2, ZIC3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
12 %
Syndromes with immunodeficiency Panel.

By CeGaT GmbH in Germany.

PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, NLRP3, DKC1, TERC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
12 %
Combined immunodeficiencies Panel.

By CeGaT GmbH in Germany.

TAP1, AK2, ADA, IL2RG, PNP, CHD7, RMRP, DCLRE1C, TBX1, SEMA3E, MAGT1, UNC119, DOCK8, JAK3, THBD, STIM1, CD40, CD40LG, CD3E, CD3D , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
12 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
12 %
Cardiomyopathies Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
12 %
Congenital Heart Diseases Panel.

By Health in Code in Spain.

ELN, EYA4, PITX2, JAG1, RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, TTN, MYH7, MYBPC3, FLNA, TBX1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
12 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
12 %
Congenital heart diseases Panel.

By Health in Code in Spain.

ELN, EYA4, FOXC1, PITX2, JAG1, NPHP4, RAF1, BRAF, CHD7, CREBBP, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, NF1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
12 %
Di-George syndrome (VCF).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

TBX1
Specificity
100 %
Genes
12 %
Invitae Congenital Heart Defects and Heterotaxy Panel.

By Invitae in United States.

INVS, ELN, JAG1, NPHP3, CEP290, TTC8, RAF1, RPGR, CCDC39, BCOR, MKS1, BBS10, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
12 %
Invitae Congenital Heart Disease Panel.

By Invitae in United States.

ELN, JAG1, RAF1, BCOR, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, NSD1, GPC3, TBX1 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
12 %
Invitae Monogenic Autoimmunity Panel.

By Invitae in United States.

STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
12 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

PMS2, TCN2, STAT3, PNP, CHD7, RMRP, TINF2, ATM, NBN, RTEL1, WAS, TBX1, SEMA3E, DKC1, TERC, TERT, PARN, CTC1, NHP2, NOP10 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
12 %
Velocardiofacial syndrome: (22q11) TBX1 gene deletions analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TBX1
Specificity
100 %
Genes
12 %
Di George syndrome: 22q11 deletion analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TBX1
Specificity
100 %
Genes
12 %
Di George syndrome: TBX1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TBX1
Specificity
100 %
Genes
12 %
Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

IL2RG, PNP, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, ZAP70, STAT5B, PTPRC, ORAI1, FOXN1, CD247
Specificity
8 %
Genes
12 %
Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ADA, IL2RG, PNP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, RAC2, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
12 %
Pan-Cardio NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, GAA, EYA4, JAG1, DSP, CRYAB, RAF1, MRPL3, NDUFAF1, TAZ, COX15, FXN, SDHA, DOLK, DMD, GLA, PTPN11, FKTN, LMNA, PSEN2 , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
12 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
12 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
12 %
TBX1.

By Fulgent Genetics Fulgent Genetics in United States.

TBX1
Specificity
100 %
Genes
12 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
12 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
12 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
12 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics in Finland.

ELN, PITX2, JAG1, BCOR, CHD7, DHCR7, HRAS, SOS2, CBL, NSD1, GPC3, ENG, NF1, FLNA, TBX1, ACTB, ACTG1, HOXA1, RBM10, NODAL , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
12 %
DiGeorge syndrome.

By Bioarray in Spain.

TBX1
Specificity
100 %
Genes
12 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
12 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
12 %
CONGENITAL HEART DEFECTS: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

ELN, TBX1, NOTCH1, ACTC1, NKX2-5, MYH6, ZIC3, GDF1, GATA4, CITED2, CRELD1, GATA6, CFC1, ZFPM2, TBX20, TAB2, MED13L
Specificity
6 %
Genes
12 %
DIGEORGE SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TBX1
Specificity
100 %
Genes
12 %
Velocardiofacial Syndrome , Deletions TBX1 Gene.

By Reference Laboratory Genetics in Spain.

TBX1
Specificity
100 %
Genes
12 %
Conotruncal Heart Malformations Related Disorders , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

TBX1, NKX2-5, GDF1, GATA6, NKX2-6
Specificity
20 %
Genes
12 %
Proximal 22Q Gene deletion/duplication.

By Molecular Diagnostics Children's Hospital of Wisconsin in United States.

TBX1, CRKL
Specificity
50 %
Genes
12 %
UFD1L.

By Fulgent Genetics Fulgent Genetics in United States.

UFD1
Specificity
100 %
Genes
12 %
Bernard Soulier syndrome Type B.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

GP1BB
Specificity
100 %
Genes
12 %
GP1BB Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

GP1BB
Specificity
100 %
Genes
12 %
GP1BB Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

GP1BB
Specificity
100 %
Genes
12 %
GPIbß sequencing.

By Genetic Services Laboratory University of Chicago in United States.

GP1BB
Specificity
100 %
Genes
12 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
12 %
GPIbß deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

GP1BB
Specificity
100 %
Genes
12 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RUNX1, CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
12 %
Bernard Soulier Syndrome.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

GP1BA, GP1BB, GP9
Specificity
34 %
Genes
12 %
Bernard-Soulier syndrome.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

GP1BA, GP1BB, GP9
Specificity
34 %
Genes
12 %
GP1BB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GP1BB
Specificity
100 %
Genes
12 %
Bernard-Soulier syndrome (sequence analysis of GP1BB gene).

By CGC Genetics in Portugal.

GP1BB
Specificity
100 %
Genes
12 %
Bernard-Soulier Syndrome Type B.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GP1BB
Specificity
100 %
Genes
12 %
BERNARD-SOULIER SYNDROME.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GP1BA, GP1BB, GP9
Specificity
34 %
Genes
12 %
Thrombocytopenia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RUNX1, CYCS, ANKRD26, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, MASTL, GP1BB, GP9
Specificity
9 %
Genes
12 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
12 %
Platelet Function Disorder Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GP1BA, ANO6, GP6, TBXA2R, P2RX1, P2RY12, TBXAS1, PLAU, ITGA2, CD36, ITGB3, ITGA2B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
12 %
Bernard-Soulier Syndrome via GP1BB Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GP1BB
Specificity
100 %
Genes
12 %
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded.

By PreventionGenetics PreventionGenetics in United States.

RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, HOXA11, GFI1B, CD36, ITGB3, ITGA2B, MASTL, ETV6 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
12 %
Platelet bleeding disorders NGS panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
12 %
Platelet bleeding disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
12 %
Platelet bleeding disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
12 %
Bernard-Soulier Panel.

By FirmaLab in United States.

GP1BA, GP1BB, GP9
Specificity
34 %
Genes
12 %
Bernard Soulier syndrome type B.

By Centogene AG - the Rare Disease Company in Germany.

GP1BB
Specificity
100 %
Genes
12 %
Thrombocytopenia panel.

By Centogene AG - the Rare Disease Company in Germany.

RUNX1, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, ITGB3, ITGA2B, MASTL, GP1BB, GP9
Specificity
9 %
Genes
12 %
Bernard Soulier Syndrome.

By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust in United Kingdom.

GP1BA, GP1BB, GP9
Specificity
34 %
Genes
12 %
Thrombocytopenia Panel.

By CeGaT GmbH in Germany.

AP3B1, MPL, MYH9, GATA1, THBD, ADAMTS13, GP1BA, ITGB3, ITGA2B, MASTL, GP1BB, RBM8A, GP9
Specificity
8 %
Genes
12 %
Thrombocytopenia.

By Asper Biogene Asper Biogene LLC in Estonia.

RUNX1, CYCS, ANKRD26, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, ITGA2B, MASTL, GP1BB, GP9
Specificity
8 %
Genes
12 %
Bernard-Soulier Syndrome Sequence Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

GP1BA, GP1BB, GP9
Specificity
34 %
Genes
12 %
aCGH Deletion/Duplication Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
12 %
Bernard-Soulier syndrome B.

By Praxis fuer Humangenetik Wien in Austria.

GP1BB
Specificity
100 %
Genes
12 %
Bernard-Soulier Syndrome Type B.

By Regional Molecular Haemostasis Laboratory Birmingham Childrens Hospital NHS Foundation Trust in United Kingdom.

GP1BB
Specificity
100 %
Genes
12 %
Bernard-Soulier syndrome B.

By MedGene in Slovakia.

GP1BB
Specificity
100 %
Genes
12 %
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
Specificity
1 %
Genes
12 %
Thrombocytopenia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RUNX1, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, MASTL, GP1BB, GP9
Specificity
10 %
Genes
12 %
GP1BB.

By Fulgent Genetics Fulgent Genetics in United States.

GP1BB
Specificity
100 %
Genes
12 %
Thrombocytopenia Panel.

By Blueprint Genetics in Finland.

RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, THBD, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
12 %
Platelet Function Disorder Panel.

By Blueprint Genetics in Finland.

RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, BLOC1S6, THPO, GP1BA, TBXA2R, P2RY12, NBEAL2, ITGB3, ITGA2B, GP1BB, WIPF1, GP9 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
12 %
Bleeding Disorder/Coagulopathy Panel.

By Blueprint Genetics in Finland.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
12 %
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
Specificity
1 %
Genes
12 %
BERNARD-SOULIER SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

GP1BA, GP1BB, GP9
Specificity
34 %
Genes
12 %
Bernard-Soulier Syndrome Type B , Sequencing GP1BB Gene.

By Reference Laboratory Genetics in Spain.

GP1BB
Specificity
100 %
Genes
12 %
Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes.

By Reference Laboratory Genetics in Spain.

F2, F5, MTHFR, F11, VWF, F9, F8, ADAMTS13, GP1BA, FGA, FGB, FGG, ITGB3, ITGA2B, GP1BB, F7, GP9, F10, F12, F13A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
12 %
Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

RUNX1, CYCS, ANKRD26, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, ITGB3, ITGA2B, JAK2, GP1BB, SRC, GP9
Specificity
7 %
Genes
12 %
Bernard-Soulier Syndrome , Panel Massive Sequencing (NGS) GP9, GP1BA, GP1BB Genes.

By Reference Laboratory Genetics in Spain.

GP1BA, GP1BB, GP9
Specificity
34 %
Genes
12 %
Platelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes.

By Reference Laboratory Genetics in Spain.

DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GP1BA, ANO6, GP6, TBXA2R, P2RY12, ITGB3, ITGA2B, GP1BB, GP9
Specificity
6 %
Genes
12 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
12 %
SEC24C.

By Fulgent Genetics Fulgent Genetics in United States.

SEC24C
Specificity
100 %
Genes
12 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
12 %
Increased Pain Sensitivity via COMT Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COMT
Specificity
100 %
Genes
12 %
Oxidation Panel.

By FirmaLab in United States.

COMT, MAOA, CBS, SOD1
Specificity
25 %
Genes
12 %
COMT Sequencing.

By FirmaLab in United States.

COMT
Specificity
100 %
Genes
12 %
Catechol-o-methyltransferase deficiency.

By Centogene AG - the Rare Disease Company in Germany.

COMT
Specificity
100 %
Genes
12 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
12 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
12 %
Pharmacogenetic panel.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

MTHFR, COMT, SOD2, ALDH2, G6PD, UGT1A1, DPYD, ABCB1, CYP2C19, CYP2D6, TPMT, VKORC1, PON1, SLCO1B1, CYP2C9, CYP1A2, BCHE, CYP3A4, ADRB2, NAT2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
12 %
Parkinson all Panel.

By CeGaT GmbH in Germany.

FMR1, PTEN, COMT, POLG, PANK2, SPR, HTRA2, GRN, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, ZFYVE26, SPG11, MAPT, ATXN2, ATXN3, GCH1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
12 %
Atypical Parkinson syndrome Panel.

By CeGaT GmbH in Germany.

FMR1, COMT, POLG, GRN, TH, PLA2G6, ZFYVE26, SPG11, MAPT, C9orf72, ATXN2, ATXN3, GCH1, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, RAB39B, FTL , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
12 %
COMT.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

COMT
Specificity
100 %
Genes
12 %
NGS panel - Parkinson.

By Genome Diagnostics VU University Medical Center in Netherlands.

COMT, POLG, SPR, HTRA2, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, MAPT, ATXN2, ATXN3, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, SYNJ1, ATP13A2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
12 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
12 %
COMT.

By Fulgent Genetics Fulgent Genetics in United States.

COMT
Specificity
100 %
Genes
12 %
YouScript Analgesic.

By Genelex in United States.

COMT, CYP2D6, CYP2C9, CYP3A4, CYP3A5, CYP2B6, OPRM1
Specificity
15 %
Genes
12 %
COMT.

By Genelex in United States.

COMT
Specificity
100 %
Genes
12 %
YouScript ADHD.

By Genelex in United States.

COMT, CYP2D6, ADRA2A
Specificity
34 %
Genes
12 %
Genecept Assay™.

By Genomind Genomind, Inc in United States.

MTHFR, COMT, MC4R, CACNA1C, CYP2C19, CYP2D6, SLC6A4, BDNF, DRD2, ADRA2A, ANK3, CYP2C9, CYP1A2, CYP3A5, CYP2B6, OPRM1, HTR2C, GRIK1
Specificity
6 %
Genes
12 %
Comprehensive Pharmacogenomics (PGX) Panel.

By ApolloGen, Inc. in United States.

F5, MTHFR, COMT, CYP2C19, CYP2D6, VKORC1, SLCO1B1, CYP2C9, CYP3A4, CYP3A5, OPRM1, HTR2A
Specificity
9 %
Genes
12 %
OneOme RightMed comprehensive test.

By OneOme in United States.

F2, F5, COMT, UGT1A1, DPYD, CYP2C19, CYP2D6, SLC6A4, DRD2, TPMT, VKORC1, SLCO1B1, CYP2C9, HLA-B, CYP1A2, IFNL3, CYP3A4, CYP4F2, CYP3A5, CYP2B6 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
12 %
Rxight Pharmacogenetics Program.

By MD Labs MD Labs in United States.

MTHFR, COMT, DPYD, CYP2C19, CYP2D6, DRD2, ADRA2A, TPMT, VKORC1, SLCO1B1, CYP2C9, CYP3A4, CYP3A5, CYP2B6, OPRM1, HTR2C, GRIK4, CYP2C8, ANKK1, UGT2B15
Specificity
5 %
Genes
12 %
COMT genotyping.

By Alpha Genomix Laboratories in United States.

COMT
Specificity
100 %
Genes
12 %
Entacapone response.

By Xcode Life Xcode Life in India.

COMT
Specificity
100 %
Genes
12 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
23 %
RREB1.

By Fulgent Genetics Fulgent Genetics in United States.

RREB1
Specificity
100 %
Genes
12 %
ARVCF.

By Fulgent Genetics Fulgent Genetics in United States.

ARVCF
Specificity
100 %
Genes
12 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
12 %
JMJD1C.

By Fulgent Genetics Fulgent Genetics in United States.

JMJD1C
Specificity
100 %
Genes
12 %
FISH Analysis for 22q11.2 Deletion.

By BayCare Laboratories, LLC BayCare Health System in United States.

HIRA
Specificity
100 %
Genes
12 %
HIRA.

By Fulgent Genetics Fulgent Genetics in United States.

HIRA
Specificity
100 %
Genes
12 %

Alternate names

22q11.2 Deletion Syndrome Is also known as 22q11ds; catch 22; cayler cardiofacial syndrome; conotruncal anomaly face syndrome; digeorge sequence; digeorge syndrome; microdeletion 22q11.2; monosomy 22q11; sedlackova syndrome; shprintzen syndrome; takao syndrome; velocardiofacial syndrome.



Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more

Other rare diseases that you may find interesting

PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1 FAMILIAL EXPANSILE OSTEOLYSIS; FEO CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 BRUGADA SYNDROME 8; BRGDA8 ANGIOEDEMA, HEREDITARY, TYPE I; HAE1 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1