SBDS gene related symptoms and diseases
All the information presented here about the SBDS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SBDS gene
Symptoms // Phenotype | % Cases |
---|---|
Aplastic anemia | Very Common - Between 80% and 100% cases |
Bone marrow hypocellularity | Very Common - Between 80% and 100% cases |
Anemia | Very Common - Between 80% and 100% cases |
Neonatal respiratory distress | Uncommon - Between 30% and 50% cases |
Acute myeloid leukemia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SBDS gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Myeloid leukemia
- Multiple lipomas
- Steatorrhea
- Short thorax
- Myelodysplasia
- Metaphyseal widening
- Ovoid vertebral bodies
- Leukopenia
And 60 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SBDS gene
Here you will find a list of rare diseases related to the SBDS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SHWACHMAN-DIAMOND SYNDROME
Alternate names
SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction, shwachman syndrome, shwachman-bodian syndrome, shwachman-diamond syndrome, shwachman-bodian-diamond syndrome, sds, lipomatosis of pancreas, congenital
Description
Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
Most common symptoms of SHWACHMAN-DIAMOND SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Scoliosis
More info about SHWACHMAN-DIAMOND SYNDROME
IDIOPATHIC APLASTIC ANEMIA
Alternate names
IDIOPATHIC APLASTIC ANEMIA Is also known as idiopathic bone marrow failure
Description
Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002).
Most common symptoms of IDIOPATHIC APLASTIC ANEMIA
- Anemia
- Bone marrow hypocellularity
- Aplastic anemia
- Hemophagocytosis
More info about IDIOPATHIC APLASTIC ANEMIA
Search interest in SBDS
Potential gene panels for SBDS gene
Hereditary Leukemia/Lymphoma Panel Panel

By Baylor Miraca Genetics Laboratories Hereditary Leukemia/Lymphoma Panel that also includes the following genes: RUNX1 BRCA2 TP53 CBL CEBPA SBDS BRIP1 PALB2 GATA2 ATM
More info about this panel
Comprehensive Hereditary Cancer Panel Panel

By Baylor Miraca Genetics Laboratories Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM
More info about this panel
Test for Shwachman-Diamond Syndrome Panel

By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the SBDS gene.
More info about this panel
Bone Marrow Failure Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Bone Marrow Failure that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS15 RPS19 RPS24 RPS26 RPS27A RPS7
More info about this panel
SBDS Sequencing Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SBDS gene.
More info about this panel
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24
More info about this panel
Inherited Neutropenia panel by next-generation sequencing (NGS) Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Inherited Neutropenia panel by next-generation sequencing (NGS) that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 SBDS LYST VPS13B CSF3R G6PC3
More info about this panel
Pancreas Panel Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Pancreas Panel that also includes the following genes: SPINK1 CASR UBR1 CEL CFTR SBDS CLDN2 CPA1 CTRC PRSS1
More info about this panel
Pancreatic Insufficiency Panel Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Pancreatic Insufficiency Panel that also includes the following genes: UBR1 CEL CFTR SBDS
More info about this panel
Inherited Bone Marrow Failure Sequencing Panel Panel

By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel
SBDS Gene Sequencing Panel

By GeneDx
This panel specifically test the SBDS gene.
More info about this panel
SBDS gene sequence Panel

By Ambry Genetics
This panel specifically test the SBDS gene.
More info about this panel
SBDS mutation analysis Panel

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the SBDS gene.
More info about this panel
SBDS. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SBDS gene.
More info about this panel
SBDS. Sequencing of the exon 2 Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SBDS gene.
More info about this panel
CHOP Comprehensive Hereditary Cancer Panel Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panel
Skeletal dysplasia (NGS panel for 31 genes) Panel

By CGC Genetics Skeletal dysplasia (NGS panel for 31 genes) that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 P3H1 SBDS SLC35D1 COL10A1
More info about this panel
Shwachman-Diamond Syndrome (sequence analysis of gene SBDS) Panel

By CGC Genetics
This panel specifically test the SBDS gene.
More info about this panel
Hereditary neutropenia (NGS panel for 22 genes) Panel

By CGC Genetics Hereditary neutropenia (NGS panel for 22 genes) that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 SBDS LYST VPS13B CSF3R G6PC3
More info about this panel
OncoRisk Plus (NGS panel for 89 genes) Panel

By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel
Shwachman-Diamond Syndrome via the SBDS Gene Panel

By PreventionGenetics PreventionGenetics
This panel specifically test the SBDS gene.
More info about this panel
Severe Congenital Neutropenia Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Severe Congenital Neutropenia Sequencing Panel with CNV Detection that also includes the following genes: SMARCD2 TAZ WAS WIPF1 WDR1 VPS45 HAX1 SBDS LYST VPS13B
More info about this panel
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

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
Skeletal dysplasia extended NGS panel Panel

By Connective Tissue Gene Tests Skeletal dysplasia extended NGS panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panel
Skeletal dysplasia core & extended Deletion / Duplication panel Panel

By Connective Tissue Gene Tests Skeletal dysplasia core & extended Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel
Skeletal dysplasia extended Comprehensive panel Panel

By Connective Tissue Gene Tests Skeletal dysplasia extended Comprehensive panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel
Skeletal dysplasia core & extended Comprehensive panel Panel

By Connective Tissue Gene Tests Skeletal dysplasia core & extended Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panel
Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panel
Skeletal dysplasia core & extended NGS panel Panel

By Connective Tissue Gene Tests Skeletal dysplasia core & extended NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel
Skeletal dysplasia extended Deletion / Duplication panel Panel

By Connective Tissue Gene Tests Skeletal dysplasia extended Deletion / Duplication panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP
More info about this panel
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel

By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel
Skeletal dysplasia and skeletal ciliopathy NGS panel Panel

By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel

By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel
Hereditary kidney disorders - different panels Panel

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel
Hereditary Cancer Syndromes - panels Panel

By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel
Aplastic anemia Panel

By Centogene AG - the Rare Disease Company
This panel specifically test the SBDS gene.
More info about this panel
CentoICU platinum plus Panel

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel
New Born testing (CentoICU) Panel

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel
Shwachman-Diamond syndrome Panel

By Centogene AG - the Rare Disease Company
This panel specifically test the SBDS gene.
More info about this panel
Metaphyseal dysplasia Panel Panel

By CeGaT GmbH Metaphyseal dysplasia Panel that also includes the following genes: RMRP RUNX2 SBDS COL10A1 FGFR3 MMP13 MMP9 PTH1R
More info about this panel
Bone marrow failure syndromes Panel Panel

By CeGaT GmbH Bone marrow failure syndromes Panel that also includes the following genes: BRCA2 SRP72 STX11 STXBP2 TERC TERT TINF2 WAS XRCC2 NHP2
More info about this panel
Defects of phagocytosis Panel Panel

By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3
More info about this panel
Single gene testing SBDS Panel

By CeGaT GmbH
This panel specifically test the SBDS gene.
More info about this panel
Shwachman-Diamond Syndrome (SBDS) Panel

By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the SBDS gene.
More info about this panel
Cancer Predisposition Panel

By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panel
Shwachman Diamond Syndrome Genetic Analysis Panel

By Laboratory of Transfusion Medicine University Hospital of Verona
This panel specifically test the SBDS gene.
More info about this panel
Shwachman-Diamond Syndrome:c.183_184delTAinsCT and c.258+2T>C mutations, SBDS gene Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SBDS gene.
More info about this panel
Shwachman-Diamond Syndrome: SBDS gene sequence analysis Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SBDS gene.
More info about this panel
Skeletal dysplasias Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Skeletal dysplasias that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panel
Hereditary Cancer NGS Panel Panel

By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panel
SBDS Panel

By Fulgent Genetics Fulgent Genetics
This panel specifically test the SBDS gene.
More info about this panel
Comprehensive Cancer Panel Panel

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel
Primary Immunodeficiency Panel Panel

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
Hereditary Leukemia Panel Panel

By Blueprint Genetics Hereditary Leukemia Panel that also includes the following genes: RIT1 RUNX1 BLM BRAF BRCA1 BRCA2 SOS1 SRP72 EPCAM TERC
More info about this panel
Comprehensive Hereditary Cancer Panel Panel

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel
Comprehensive Hematology Panel Panel

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel
Bone Marrow Failure Syndrome Panel Panel

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel
Metaphyseal Dysplasia Panel Panel

By Blueprint Genetics Metaphyseal Dysplasia Panel that also includes the following genes: RMRP RUNX2 ANKH CDKN1C SBDS COL10A1 FGFR3 FLNA MMP13 MMP9
More info about this panel
Skeletal Dysplasias Core Panel Panel

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panel
Comprehensive Skeletal Dysplasias and Disorders Panel Panel

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
Congenital Neutropenia Panel Panel

By Blueprint Genetics Congenital Neutropenia Panel that also includes the following genes: SMARCD2 SRP72 WAS WDR1 ACTB MRTFA VPS45 HAX1 SBDS LYST
More info about this panel
Anemia Panel Panel

By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

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
Shwachman-Diamond syndrome Panel

By Bioarray
This panel specifically test the SBDS gene.
More info about this panel
Severe Congenital Neutropenia Gene Set Panel

By Genomics and Pathology Services Washington University in St. Louis Severe Congenital Neutropenia Gene Set that also includes the following genes: RUNX1 SRP54 TAZ TCIRG1 WAS VPS45 HAX1 SBDS LYST VPS13B
More info about this panel
Inherited Bone Marrow Failure Panel Panel

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel
Caris MI TumorSeek 592-Gene NGS Panel Panel

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
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SHWACHMAN-DIAMOND SYNDROME Panel

By Laboratorio de Genetica Clinica SL
This panel specifically test the SBDS gene.
More info about this panel
NEUTROPENIA CONGENITAL: NGS PANEL Panel

By Laboratorio de Genetica Clinica SL NEUTROPENIA CONGENITAL: NGS PANEL that also includes the following genes: WAS VPS45 HAX1 SBDS CSF3R G6PC3 CXCR4 JAGN1 ELANE GFI1
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Shwachman-Diamond Syndrome , Sequencing SBDS Gene Panel

By Reference Laboratory Genetics
This panel specifically test the SBDS gene.
More info about this panel
Shwachman-Diamond Syndrome , Screening Mutations SBDS Gene Panel

By Reference Laboratory Genetics
This panel specifically test the SBDS gene.
More info about this panel
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel

By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
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Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Panel

By Reference Laboratory Genetics Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
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Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Panel

By Reference Laboratory Genetics Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panel
Idiopathic Aplastic Anemia , Panel Massive Sequencing (NGS) 6 Genes Panel

By Reference Laboratory Genetics Idiopathic Aplastic Anemia , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: TERC TERT SBDS IFNG NBN PRF1
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Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes Panel

By Reference Laboratory Genetics Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: TAZ WAS WIPF1 HAX1 SBDS LYST VPS13B CSF3R G6PC3 CXCR4
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Tempus xO assay Panel

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel
Shwachman-Diamond Syndrome: gene sequencing Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SBDS gene.
More info about this panel
Shwachman-Diamond Syndrome: gene deletion/duplication Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SBDS gene.
More info about this panel
PancreasDx Panel

By Ariel Precision Medicine PancreasDx that also includes the following genes: SPINK1 SLC26A9 CASR UBR1 CEL CFTR SBDS CLDN2 CTRC GGT1
More info about this panel
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