TWIST1 gene related symptoms and diseases

All the information presented here about the TWIST1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TWIST1 gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Brachycephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TWIST1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Craniosynostosis
  • Plagiocephaly
  • Increased intracranial pressure
  • Proptosis
  • Strabismus
  • Global developmental delay
  • Rarely - Less than 30% cases

  • Frontal bossing
  • Telecanthus

And 151 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TWIST1 gene

Here you will find a list of rare diseases related to the TWIST1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SAETHRE-CHOTZEN SYNDROME


Alternate names

SAETHRE-CHOTZEN SYNDROME Is also known as acs3, acrocephalosyndactyly type 3, scs, acrocephaly, skull asymmetry, and mild syndactyly, acs iii, acrocephalosyndactyly, type iii, chotzen syndrome

Description

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

Most common symptoms of SAETHRE-CHOTZEN SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


More info about SAETHRE-CHOTZEN SYNDROME

SOURCES: OMIM ORPHANET

CRANIOSYNOSTOSIS 1; CRS1


Alternate names

CRANIOSYNOSTOSIS 1; CRS1 Is also known as crs, craniostenosis

Description

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis. Genetic Heterogeneity of CraniosynostosisCraniosynostosis-2 (CRS2 ) is caused by mutation in the MSX2 gene (OMIM ) on chromosome 5q. Craniosynostosis-3 (CRS3 ) is caused by mutation in the TCF12 gene (OMIM ) on chromosome 15q21. Craniosynostosis-4 (CRS4 ) is caused by mutation in the ERF gene (OMIM ) on chromosome 19q13. Susceptibility to craniosynostosis-5 (CRS5 ) is conferred by variation in the ALX4 gene (OMIM ) on chromosome 7p21. Craniosynostosis-6 (CRS6 ) is caused by mutation in the ZIC1 gene (OMIM ) on chromosome 3q24. Susceptibility to craniosynostosis-7 (CRS7 ) is conferred by variation in the SMAD6 gene (OMIM ) on chromosome 15q22.

Most common symptoms of CRANIOSYNOSTOSIS 1; CRS1

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Blindness
  • Clinodactyly


More info about CRANIOSYNOSTOSIS 1; CRS1

SOURCES: ORPHANET OMIM

ISOLATED PLAGIOCEPHALY


Alternate names

ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis, synostotic plagiocephaly

Description

Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.

Most common symptoms of ISOLATED PLAGIOCEPHALY

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Strabismus
  • Macrocephaly


More info about ISOLATED PLAGIOCEPHALY

SOURCES: ORPHANET

ROBINOW-SORAUF SYNDROME


Alternate names

ROBINOW-SORAUF SYNDROME Is also known as acrocephalosyndactyly, robinow-sorauf type, craniosynostosis-bifid hallux syndrome

Most common symptoms of ROBINOW-SORAUF SYNDROME

  • Hypertelorism
  • Strabismus
  • Malar flattening
  • Flat face
  • Plagiocephaly


More info about ROBINOW-SORAUF SYNDROME

SOURCES: OMIM ORPHANET MESH

SWEENEY-COX SYNDROME; SWCOS


Description

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Most common symptoms of SWEENEY-COX SYNDROME; SWCOS

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


More info about SWEENEY-COX SYNDROME; SWCOS

SOURCES: OMIM

ISOLATED SCAPHOCEPHALY


Alternate names

ISOLATED SCAPHOCEPHALY Is also known as isolated dolichocephaly, non-syndromic sagittal synostosis

Description

Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.

Most common symptoms of ISOLATED SCAPHOCEPHALY

  • Frontal bossing
  • Dolichocephaly
  • Increased intracranial pressure
  • Prominent occiput


More info about ISOLATED SCAPHOCEPHALY

SOURCES: ORPHANET

ISOLATED BRACHYCEPHALY


Alternate names

ISOLATED BRACHYCEPHALY Is also known as non-syndromic bicoronal synostosis

Description

Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.

Most common symptoms of ISOLATED BRACHYCEPHALY

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Brachydactyly
  • Midface retrusion


More info about ISOLATED BRACHYCEPHALY

SOURCES: ORPHANET


Potential gene panels for TWIST1 gene

NGS Craniosynostosis Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Craniosynostosis Panel that also includes the following genes: TWIST1 RAB23 FGFR1 FGFR2 MSX2 POR RECQL4

More info about this panel

Saethre-Chotzen syndrome Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the TWIST1 gene.

More info about this panel

Saethre-Chotzen Syndrome - TWIST1 Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the TWIST1 gene.

More info about this panel

Test for Saethre-Chotzen Syndrome Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the TWIST1 gene.

More info about this panel

Saethre-Chotzen Syndrome Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Saethre-Chotzen Syndrome that also includes the following genes: TWIST1 FGFR2 FGFR3

More info about this panel

Saethre-Chotzen Syndrome - Twist Gene Analysis Panel

United States.

By Center for Genetics at Saint Francis Saint Francis Hospital

This panel specifically test the TWIST1 gene.

More info about this panel

Craniodysmorphology Panel (FGFR1,2,3,TWIST) Panel

United States.

By Center for Genetics at Saint Francis Saint Francis Hospital Craniodysmorphology Panel (FGFR1,2,3,TWIST) that also includes the following genes: TWIST1 FGFR2

More info about this panel

Craniosynostosis Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Craniosynostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 ASXL1 WDR19 WDR35 IFT43

More info about this panel

Craniofacial Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1

More info about this panel

Craniofacial Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1

More info about this panel

Craniosynostosis Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Craniosynostosis that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45

More info about this panel

TWIST. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TWIST1 gene.

More info about this panel

TWIST. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TWIST1 gene.

More info about this panel

Saethre-Chotzen Syndrome Panel

Spain.

By Unity of Clinical Genetics and Functional Genomics University of Zaragoza. Faculty of Medicine.

This panel specifically test the TWIST1 gene.

More info about this panel

Saethre-Chotzen Syndrome - TWIST Sequence Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Saethre-Chotzen Syndrome - TWIST Sequence Analysis that also includes the following genes: TWIST1 FGFR3

More info about this panel

Craniosynostosis Next Generation Sequencing Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Next Generation Sequencing Panel that also includes the following genes: TWIST1 FGFR1 FGFR2 FGFR3

More info about this panel

Craniosynostosis Sequence Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Sequence Analysis that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35

More info about this panel

Craniofacial Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniosynostosis Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35

More info about this panel

Craniosynostosis Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Seq + Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35

More info about this panel

Craniofacial Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniofacial Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Saethre-Chotzen syndrome (sequence analysis of TWIST1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TWIST1 gene.

More info about this panel

Craniosynostosis (NGS panel for 4 genes) Panel

Portugal.

By CGC Genetics Craniosynostosis (NGS panel for 4 genes) that also includes the following genes: TWIST1 FGFR1 FGFR2 FGFR3

More info about this panel

Saethre-Chotzen syndrome (deletion/duplication analysis of TWIST1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TWIST1 gene.

More info about this panel

Craniosynostosis (NGS panel for 30 genes) Panel

Portugal.

By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1

More info about this panel

Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) Panel

Portugal.

By CGC Genetics Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) that also includes the following genes: RUNX2 TWIST1 ALX1 EFNB1 FGFR1 FGFR2 FGFR3 ALX3 ALX4 MSX2

More info about this panel

Saethre-Chotzen Syndrome TWIST1 Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the TWIST1 gene.

More info about this panel

Craniosynostosis and Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Craniosynostosis and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3

More info about this panel

Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SF3B4 SMC1A TCF12 TCOF1 TWIST1 HDAC8 SRCAP POLR1C POLR1D CREBBP

More info about this panel

Saethre-Chotzen Syndrome via TWIST1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TWIST1 gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Craniosynostosis core NGS panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis core NGS panel that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3

More info about this panel

Craniosynostosis core Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis core Comprehensive panel that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3

More info about this panel

Craniosynostosis core Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis core Deletion / Duplication panel that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3

More info about this panel

Craniosynostosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Deletion / Duplication panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Comprehensive panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis NGS panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis, type 1 Sequencing test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TWIST1 gene.

More info about this panel

Saethre-Chotzen syndrome Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TWIST1 gene.

More info about this panel

Saethre-Chotzen syndrome sequencing test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TWIST1 gene.

More info about this panel

Saethre-Chotzen syndrome Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TWIST1 gene.

More info about this panel

Craniosynostosis, type 1 Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TWIST1 gene.

More info about this panel

Craniosynostosis, type 1 Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the TWIST1 gene.

More info about this panel

Saethre-chotzen syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the TWIST1 gene.

More info about this panel

TWIST1-related craniosynostosis Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the TWIST1 gene.

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Saethre-Chotzen syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TWIST1 gene.

More info about this panel

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

Single gene testing TWIST1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the TWIST1 gene.

More info about this panel

Craniosynostosis syndromes Panel Panel

Germany.

By CeGaT GmbH Craniosynostosis syndromes Panel that also includes the following genes: SKI TCF12 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43 EFNB1

More info about this panel

Craniosynostosis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Craniosynostosis that also includes the following genes: TWIST1 FGFR1 FGFR2 FGFR3 IL11RA MSX2 RECQL4

More info about this panel

Saethre-Chotzen Syndrome Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the TWIST1 gene.

More info about this panel

TWIST1 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the TWIST1 gene.

More info about this panel

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Invitae Craniosynostosis Panel Panel

United States.

By Invitae Invitae Craniosynostosis Panel that also includes the following genes: TWIST1 RAB23 MEGF8 ERF FGFR1 FGFR2 FGFR3 GLI3 MSX2

More info about this panel

Saethre-Chotzen syndrome: TWIST1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TWIST1 gene.

More info about this panel

Craniosysostosis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Craniosysostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43

More info about this panel

TWIST - Gene Sequencing & Del/Dup analysis Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the TWIST1 gene.

More info about this panel

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

TWIST1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TWIST1 gene.

More info about this panel

Facial Dysostosis and Related Disorders Panel Panel

Finland.

By Blueprint Genetics Facial Dysostosis and Related Disorders Panel that also includes the following genes: SF3B4 SMC1A TCOF1 TWIST1 UBE2A HDAC8 SRCAP EVC2 POLR1C POLR1D

More info about this panel

Craniosynostosis Panel Panel

Finland.

By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel Panel

United States.

By Insight Medical Genetics Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel that also includes the following genes: ROR2 BMP1 SLC26A2 SOX9 TWIST1 WNT1 SERPINH1 IFITM5 SP7 FKBP10

More info about this panel

Saethre-Chotzen syndrome Panel

Spain.

By Bioarray

This panel specifically test the TWIST1 gene.

More info about this panel

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

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

SAETHRE-CHOTZEN SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the TWIST1 gene.

More info about this panel

CRANIOSYNOSTOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS NGS PANEL that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1

More info about this panel

Saethre-Chotzen Syndrome, Sequencing TWIST1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TWIST1 gene.

More info about this panel

Saethre-Chotzen Syndrome , Deletions-Duplications (MLPA) TWIST1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TWIST1 gene.

More info about this panel

Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: TWIST1 RAB23 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 MSX2 POR

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

Saethre-Chotzen Syndrome: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the TWIST1 gene.

More info about this panel

Saethre-Chotzen Syndrome: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the TWIST1 gene.

More info about this panel


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