TBX1 gene related symptoms and diseases
All the information presented here about the TBX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TBX1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Tetralogy of Fallot | Very Common - Between 80% and 100% cases |
| Abnormality of cardiovascular system morphology | Very Common - Between 80% and 100% cases |
| Ventricular septal defect | Very Common - Between 80% and 100% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with TBX1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Nasal speech
- Cleft palate
- Truncus arteriosus
- Patent ductus arteriosus
- Interrupted aortic arch
- Abnormal facial shape
- Specific learning disability
- Abnormal heart morphology
And 348 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TBX1 gene
Here you will find a list of rare diseases related to the TBX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
POLYCYSTIC OVARY SYNDROME 1; PCOS1
Alternate names
POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos
Description
a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance
Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1
- Neoplasm
- Abnormality of metabolism/homeostasis
- Obesity
- Diabetes mellitus
- Apnea
More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1
TETRALOGY OF FALLOT
Description
Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.
Most common symptoms of TETRALOGY OF FALLOT
- Growth delay
- Muscle weakness
- Cryptorchidism
- Anemia
- Brachydactyly
More info about TETRALOGY OF FALLOT
22Q11.2 DELETION SYNDROME
Alternate names
22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11, digeorge sequence, sedlackova syndrome, takao syndrome, velocardiofacial syndrome, shprintzen syndrome, conotruncal anomaly face syndrome, digeorge syndrome, catch 22, cayler cardiofacial syndrome, microdeletion 22q11.2, 22q11ds
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.
Most common symptoms of 22Q11.2 DELETION SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about 22Q11.2 DELETION SYNDROME
SOURCES: ORPHANET
CONOTRUNCAL HEART MALFORMATIONS; CTHM
Most common symptoms of CONOTRUNCAL HEART MALFORMATIONS; CTHM
- Intellectual disability
- Global developmental delay
- Hypertelorism
- Cleft palate
- Depressed nasal bridge
More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM
SOURCES: OMIM
VELOCARDIOFACIAL SYNDROME
Alternate names
VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome, shprintzen vcf syndrome, vcf syndrome, vcfs
Most common symptoms of VELOCARDIOFACIAL SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about VELOCARDIOFACIAL SYNDROME
SOURCES: OMIM
DIGEORGE SYNDROME; DGS
Alternate names
DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids, chromosome 22q11.2 deletion syndrome, third and fourth pharyngeal pouch syndrome
Description
DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.
Most common symptoms of DIGEORGE SYNDROME; DGS
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about DIGEORGE SYNDROME; DGS
SOURCES: OMIM
22Q11.2 MICRODUPLICATION SYNDROME
Alternate names
22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2, chromosome 22q11.2 microduplication syndrome, trisomy 22q11.2, dup(22)(q11)
Description
The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.
Most common symptoms of 22Q11.2 MICRODUPLICATION SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about 22Q11.2 MICRODUPLICATION SYNDROME
Search interest in TBX1
Potential gene panels for TBX1 gene
Epilepsy Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders that also includes the following genes: SYNGAP1 TBX1 TSC1 TSC2 SETBP1 PANK2 ADGRV1 ATP6V0A2 MAGI2 VPS13A
More info about this panel United States.
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panel United States.
OtoSCOPE Panel
United States.
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1
More info about this panel United States.
Congenital Heart Disease Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Congenital Heart Disease Panel that also includes the following genes: TBX1 TBX5 NKX2-5
More info about this panel United States.
Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E DCLRE1C ADA
More info about this panel United States.
TBX1 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the TBX1 gene.
More info about this panel United States.
Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E ADA NHEJ1
More info about this panel United States.
TBX1 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the TBX1 gene.
More info about this panel United States.
Hypoparathyroidism Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypoparathyroidism Deletion/Duplication Panel that also includes the following genes: STX16 TBCE TBX1 CASR CHD7 FAM111A CYP24A1 AIRE GATA3 GCM2
More info about this panel United States.
Hypoparathyroidism sequencing panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypoparathyroidism sequencing panel that also includes the following genes: STX16 TBCE TBX1 CASR CDH7 FAM111A CYP24A1 AIRE GATA3 GCM2
More info about this panel United States.
TBX1 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the TBX1 gene.
More info about this panel United States.
CardioNext with TTN Panel
United States.
By Ambry Genetics CardioNext with TTN that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TAZ TBX1 TBX20 TBX5
More info about this panel United States.
CustomNext: Cardio Panel
United States.
By Ambry Genetics CustomNext: Cardio that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SKI SNTA1 TAZ TBX1 TBX20
More info about this panel United States.
TBX1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TBX1 gene.
More info about this panel Spain.
Severe combined immunodeficiency Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Seq + Del/Dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG
More info about this panel United States.
Severe combined immunodeficency Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficency Seq Analysis that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG
More info about this panel United States.
Severe combined immunodeficiency Del/dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Del/dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG
More info about this panel United States.
DiGeorge syndrome (sequence analysis of TBX1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TBX1 gene.
More info about this panel Portugal.
DiGeorge syndrome (deletion/duplication analysis of TBX1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TBX1 gene.
More info about this panel Portugal.
Congenital heart disease Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Congenital heart disease Deletion / Duplication panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6
More info about this panel United States.
Congenital heart disease Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Congenital heart disease Comprehensive panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6
More info about this panel United States.
Congenital heart disease NGS panel Panel
United States.
By Connective Tissue Gene Tests Congenital heart disease NGS panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6
More info about this panel United States.
Heart Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
More info about this panel Germany.
TBX1 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the TBX1 gene.
More info about this panel Netherlands.
Severe combined immunodeficiency (SCID) panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Severe combined immunodeficiency (SCID) panel that also includes the following genes: STAT5B STIM1 TBX1 CD40 CD40LG ZAP70 CD3D CD3E CD3G CD8A
More info about this panel Netherlands.
B-positive SCID panel Panel
Germany.
By Centogene AG - the Rare Disease Company B-positive SCID panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 ORAI1
More info about this panel Germany.
Comprehensive SCID panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive SCID panel that also includes the following genes: RMRP STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C
More info about this panel Germany.
DiGeorge syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TBX1 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Congenital heart defects panel Panel
Germany.
By Centogene AG - the Rare Disease Company Congenital heart defects panel that also includes the following genes: TBX1 TBX20 CRELD1 ZFPM2 CFC1 CITED2 NKX2-5 FOXH1 GATA4 GATA6
More info about this panel Germany.
Congenital Heart Defects Panel Panel
Germany.
By CeGaT GmbH Congenital Heart Defects Panel that also includes the following genes: SEMA3E TBX1 TBX20 TBX3 TBX5 TFAP2B TLL1 ZIC3 ACTC1 CRELD1
More info about this panel Germany.
Syndromes with immunodeficiency Panel Panel
Germany.
By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1
More info about this panel Germany.
Combined immunodeficiencies Panel Panel
Germany.
By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40
More info about this panel Germany.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Cardiomyopathies Panel Panel
Spain.
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panel Spain.
Congenital Heart Diseases Panel Panel
Spain.
By Health in Code Congenital Heart Diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TNNI3 TTN ACTA2 ACTC1 CRELD1
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Congenital heart diseases Panel Panel
Spain.
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panel Spain.
Di-George syndrome (VCF) Panel
Belgium.
By Center for Human Genetics Cliniques Universitaires Saint Luc
This panel specifically test the TBX1 gene.
More info about this panel Belgium.
Invitae Congenital Heart Defects and Heterotaxy Panel Panel
United States.
By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298
More info about this panel United States.
Invitae Congenital Heart Disease Panel Panel
United States.
By Invitae Invitae Congenital Heart Disease Panel that also includes the following genes: RIT1 BRAF SOS1 TBX1 TBX5 ZIC3 NSD1 ACTC1 CRELD1 CBL
More info about this panel United States.
Invitae Monogenic Autoimmunity Panel Panel
United States.
By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2
More info about this panel United States.
Invitae Syndromic Combined Immunodeficiency (CID) Panel Panel
United States.
By Invitae Invitae Syndromic Combined Immunodeficiency (CID) Panel that also includes the following genes: RMRP SEMA3E SMARCAL1 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT
More info about this panel United States.
Velocardiofacial syndrome: (22q11) TBX1 gene deletions analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TBX1 gene.
More info about this panel Spain.
Di George syndrome: 22q11 deletion analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TBX1 gene.
More info about this panel Spain.
Di George syndrome: TBX1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TBX1 gene.
More info about this panel Spain.
Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel that also includes the following genes: STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 ORAI1 IL2RG
More info about this panel United States.
Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel that also includes the following genes: STAT5B STIM1 TBX1 FOXN1 ZAP70 CD3D CD3E CD247 DCLRE1C ADA
More info about this panel United States.
Pan-Cardio NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Pan-Cardio NGS Panel that also includes the following genes: MRPL3 RYR2 SCN1B SCN4B SCN5A SDHA SGCD SNTA1 TAZ TBX1
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
TBX1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TBX1 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Severe Combined Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4
More info about this panel Finland.
Congenital Structural Heart Disease Panel Panel
Finland.
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
More info about this panel Finland.
DiGeorge syndrome Panel
Spain.
By Bioarray
This panel specifically test the TBX1 gene.
More info about this panel Spain.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
CONGENITAL HEART DEFECTS: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CONGENITAL HEART DEFECTS: NGS PANEL that also includes the following genes: TBX1 TBX20 TBX5 ZIC3 ACTC1 CRELD1 ZFPM2 TAB2 CFC1 CITED2
More info about this panel Spain.
DIGEORGE SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the TBX1 gene.
More info about this panel Spain.
Velocardiofacial Syndrome , Deletions TBX1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TBX1 gene.
More info about this panel Spain.
Conotruncal Heart Malformations Related Disorders , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Conotruncal Heart Malformations Related Disorders , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: TBX1 NKX2-5 NKX2-6 GATA6 GDF1
More info about this panel Spain.
Proximal 22Q Gene deletion/duplication Panel
United States.
By Molecular Diagnostics Children's Hospital of Wisconsin Proximal 22Q Gene deletion/duplication that also includes the following genes: TBX1 CRKL
More info about this panel United States.
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