AP3B1 gene related symptoms and diseases
All the information presented here about the AP3B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to AP3B1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Recurrent bacterial infections | Very Common - Between 80% and 100% cases |
Hepatosplenomegaly | Very Common - Between 80% and 100% cases |
Thin upper lip vermilion | Very Common - Between 80% and 100% cases |
Photophobia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with AP3B1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Conductive hearing impairment
- Respiratory tract infection
- Carious teeth
- Smooth philtrum
- Neutropenia
- Hip dysplasia
- Albinism
- Retrognathia
And 34 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AP3B1 gene
Here you will find a list of rare diseases related to the AP3B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA
Alternate names
HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2, hermansky-pudlak syndrome type 2
Description
Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.
Most common symptoms of HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Microcephaly
- Nystagmus
More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA
Search interest in AP3B1
Potential gene panels for AP3B1 gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelOcular Albinism and Hermansky Pudlak Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Ocular Albinism and Hermansky Pudlak Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panelComprehensive Pulmonary Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panelHermansky-Pudlak and Pulmonary Fibrosis Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hermansky-Pudlak and Pulmonary Fibrosis Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT TINF2 NKX2-1 HPS3
More info about this panelDiffuse Lung Disease NGS Panel Panel
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Diffuse Lung Disease NGS Panel that also includes the following genes: SFTPA2 SFTPB SFTPC SLC7A7 TERC TERT TINF2 NKX2-1 HPS4 CSF2RA
More info about this panelIdiopathic Pulmonary Fibrosis NGS Panel Panel
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Idiopathic Pulmonary Fibrosis NGS Panel that also includes the following genes: SFTPA2 SFTPC TERC TERT TINF2 NKX2-1 HPS4 DKC1 ABCA3 HPS1
More info about this panelPlatelet Disorders Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Platelet Disorders that also includes the following genes: RUNX1 STIM1 TBXA2R TBXAS1 USF1 VPS33B VWF WAS GP6 HPS3
More info about this panelBone 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 panelHemophagocytic Lymphohistiocytosis 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 Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS) that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 GATA2 AP3B1
More info about this panelInherited 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 panelBone Marrow Failure Syndromes Deletion/Duplication Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Deletion/Duplication Panel that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panelHemophagocytic Lymphohistiocytosis Deletion/Duplication Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 AP3B1 XIAP
More info about this panelInherited Neutropenia Deletion/Duplication Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Inherited Neutropenia Deletion/Duplication Panel that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 LYST VPS13B CSF3R G6PC3 CXCR4
More info about this panelAP3B1 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the AP3B1 gene.
More info about this panelAP3B1 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 AP3B1 gene.
More info about this panelAlbinism sequencing panel Panel
By Genetic Services Laboratory University of Chicago Albinism sequencing panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panelAlbinism Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Albinism Deletion/Duplication Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panelAP3B1 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the AP3B1 gene.
More info about this panelHermansky-Pudlak Syndrome Panel (9 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Hermansky-Pudlak Syndrome Panel (9 Genes) that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panelPulmoGene Panel (64 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panelPulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes) Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes) that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT NKX2-1 HPS3 HPS4
More info about this panelAP3B1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the AP3B1 gene.
More info about this panelHermansky-Pudlak syndrome 2 (sequence analysis of AP3B1 gene) Panel
By CGC Genetics
This panel specifically test the AP3B1 gene.
More info about this panelHereditary 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 panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panelBleeding Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3
More info about this panelPlatelet Function Disorder Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Platelet Function Disorder Sequencing Panel with CNV Detection that also includes the following genes: TBXA2R TBXAS1 GP6 HPS3 HPS4 CD36 HPS5 DTNBP1 P2RY12 HPS6
More info about this panelFamilial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 TNFRSF1A CD27 CD70 WAS NLRP3
More info about this panelHermansky-Pudlak Syndrome (HPS) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hermansky-Pudlak Syndrome (HPS) Sequencing Panel with CNV Detection that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panelHermansky-Pudlak Syndrome Type 2 (HPS2) via AP3B1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the AP3B1 gene.
More info about this panelSevere 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 panelHypopigmentation Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypopigmentation Sequencing Panel with CNV Detection that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6
More info about this panelThrombocytopenia NGS Panel Panel
By Connective Tissue Gene Tests Thrombocytopenia NGS Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST
More info about this panelPlatelet bleeding disorders NGS panel Panel
By Connective Tissue Gene Tests Platelet bleeding disorders NGS panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1
More info about this panelThrombocytopenia Deletion / Duplication Panel Panel
By Connective Tissue Gene Tests Thrombocytopenia Deletion / Duplication Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST
More info about this panelPlatelet bleeding disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Platelet bleeding disorders Deletion / Duplication panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1
More info about this panelThrombocytopenia Comprehensive Panel Panel
By Connective Tissue Gene Tests Thrombocytopenia Comprehensive Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST
More info about this panelPlatelet bleeding disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Platelet bleeding disorders Comprehensive panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelHLH/immunedisregulation panel Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht HLH/immunedisregulation panel that also includes the following genes: SH2D1A STX11 STXBP2 LYST UNC13D AP3B1 XIAP PRF1 RAB27A
More info about this panelHermansky-Pudlak syndrome type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the AP3B1 gene.
More info about this panelAllNeuro panel Panel
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 panelComprehensive pulmonary disease panel Panel
By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
More info about this panelHermansky-Pudlak syndrome Panel Panel
By CeGaT GmbH Hermansky-Pudlak syndrome Panel that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panelHermansky-Pudlak Syndrome Panel Panel
By CeGaT GmbH Hermansky-Pudlak Syndrome Panel that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panelThrombocytopenia Panel Panel
By CeGaT GmbH Thrombocytopenia Panel that also includes the following genes: THBD ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 AP3B1 ITGA2B ITGB3
More info about this panelImmune dysregulation Panel Panel
By CeGaT GmbH Immune dysregulation Panel that also includes the following genes: SH2D1A STX11 STXBP2 FAS FASLG TREX1 ITCH CASP10 CASP8 CARD11
More info about this panelDefects 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 panelOculocutaneous Albinism Panel
By Asper Biogene Asper Biogene LLC Oculocutaneous Albinism that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panelHermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel Panel
By Molecular Vision Laboratory Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6
More info about this panelAP3B1/HPS2 single-gene sequencing Panel
By Molecular Vision Laboratory
This panel specifically test the AP3B1 gene.
More info about this panelHermansky-Pudlak Syndrome 2 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the AP3B1 gene.
More info about this panelHermansky-Pudlak Syndrome 2 Panel
By MedGene
This panel specifically test the AP3B1 gene.
More info about this panelInvitae Monogenic Autoimmunity Panel Panel
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 panelInvitae Primary Immunodeficiency Panel Panel
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panelInvitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Panel
By Invitae Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 CD27 WAS ADA LYST UNC13D
More info about this panelPulmonary Disease: Comprehensive Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPB SFTPC SFTPD STAT3 TERT
More info about this panelPulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel that also includes the following genes: SFTPA1 SFTPB SFTPC SFTPD TERT HPS3 HPS4 DTNBP1 HPS6 BLOC1S3
More info about this panelHemophagocytic Lymphohistiocytosis: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hemophagocytic Lymphohistiocytosis: Sequencing Panel that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 NLRC4 LYST UNC13D MAGT1 GATA2
More info about this panelHermansky-Pudlak Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hermansky-Pudlak Syndrome NGS Panel that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panelLung Disorders NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Lung Disorders NGS Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC TERC
More info about this panelIntellectual Disability NGS Panel Panel
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 panelAP3B1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AP3B1 gene.
More info about this panelPrimary 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 panelAlbinism Panel Panel
By Blueprint Genetics Albinism Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panelPlatelet Function Disorder Panel Panel
By Blueprint Genetics Platelet Function Disorder Panel that also includes the following genes: RUNX1 TBXA2R THPO WIPF1 HPS3 HPS4 HPS5 DTNBP1 P2RY12 HPS6
More info about this panelBleeding Disorder/Coagulopathy Panel Panel
By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3
More info about this panelComprehensive 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 panelHermansky-Pudlak Syndrome Panel Panel
By Blueprint Genetics Hermansky-Pudlak Syndrome Panel that also includes the following genes: SFTPB SFTPC TERC TERT TINF2 TYR TYRP1 HPS3 HPS4 SLC45A2
More info about this panelBone 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 panelHermansky-Pudlak syndrome Panel
By Bioarray
This panel specifically test the AP3B1 gene.
More info about this panelSevere 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 panelHERMANSKY-PUDLAK SYNDROME: NGS PANEL- Panel
By Laboratorio de Genetica Clinica SL HERMANSKY-PUDLAK SYNDROME: NGS PANEL- that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panelHERMANSKY-PUDLAK SYNDROME Panel
By Laboratorio de Genetica Clinica SL HERMANSKY-PUDLAK SYNDROME that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panelHermansky-Pudlak Syndrome Type 2 , Sequencing AP3B1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the AP3B1 gene.
More info about this panelFamilial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes Panel
By Reference Laboratory Genetics Familial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: SH2D1A SLC7A7 STX11 STXBP2 CD27 LYST UNC13D MAGT1 AP3B1 XIAP
More info about this panelBone 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
More info about this panelHermansky-Pudlak Syndrome , Panel Massive Sequencing (NGS) 9 Genes Panel
By Reference Laboratory Genetics Hermansky-Pudlak Syndrome , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: HPS3 HPS4 HPS5 DTNBP1 HPS6 BLOC1S3 HPS1 AP3B1 BLOC1S6
More info about this panelSevere 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
More info about this panelPlatelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes Panel
By Reference Laboratory Genetics Platelet Function Related Disorders , Panel Massive Sequencing (NGS) 17 Genes that also includes the following genes: TBXA2R GP6 HPS3 HPS4 HPS5 DTNBP1 P2RY12 HPS6 BLOC1S3 ANO6
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