Neutropenia, Severe Congenital, 1, Autosomal Dominant; Scn1

Description

Severe congenital neutropenia is a heterogeneous disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections (Skokowa et al., 2007). About 60% of affected individuals of European and Middle Eastern ancestry have dominant ELANE mutations, resulting in a form of severe congenital neutropenia, which is designated here as SCN1. Genetic Heterogeneity of Severe Congenital NeutropeniaSevere congenital neutropenia is a genetically heterogeneous disorder showing autosomal dominant, autosomal recessive, and X-linked inheritance. Autosomal dominant SCN2 (OMIM ) is caused by mutation in the protooncogene GFI1 (OMIM ) on chromosome 1p22. Autosomal recessive SCN3 (OMIM ) is caused by mutation in the HAX1 gene (OMIM ) on 1q21.3; autosomal recessive SCN4 (OMIM ) is caused by mutation in the G6PC3 gene (OMIM ) on 17q21; autosomal recessive SCN5 (OMIM ) is caused by mutation in the VPS45 gene (OMIM ) on 1q; autosomal recessive SCN6 (OMIM ) is caused by mutation in the JAGN1 gene (OMIM ) on 3p25; and autosomal recessive SCN7 (OMIM ) is caused by mutation in the CSF3R gene (OMIM ) on 1p34. X-linked SCN (SCNX ) is caused by mutation in the WAS gene (OMIM ) on Xp11.For associations pending confirmation, see MOLECULAR GENETICS.See also adult chronic idiopathic nonimmune neutropenia (OMIM ) and chronic benign familial neutropenia (OMIM ). Susceptibility to Myelodysplastic Syndrome/Acute Myeloid LeukemiaSCN patients with acquired mutations in the granulocyte colony-stimulating factor receptor (CSF3R ) in hematopoietic cells define a group with high risk for progression to myelodysplastic syndrome and/or acute myeloid leukemia. Approximately 80% of SCN patients who develop AML are heterozygous for somatic CSF3R mutations (summary by Klimiankou et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Neutropenia, Severe Congenital, 1, Autosomal Dominant; Scn1

  • Anemia
  • Leukemia
  • Neutropenia
  • Recurrent bacterial infections
  • Myelodysplasia
  • Eosinophilia
  • Growth abnormality
  • Increased antibody level in blood
  • Acute myeloid leukemia
  • Thrombocytosis
And another 6 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Neutropenia, Severe Congenital, 1, Autosomal Dominant; Scn1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

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

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1 , (...)

View the complete list with 39 more genes
Specificity
4 %
Genes
67 %
Inherited Neutropenia panel by next-generation sequencing (NGS).

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

SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
67 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

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

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 35 more genes
Specificity
4 %
Genes
67 %
Inherited Neutropenia Deletion/Duplication Panel.

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

SLC37A4, HAX1, AP3B1, TAZ, GATA2, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1
Specificity
10 %
Genes
67 %
GFI1 Deletion/duplication analysis.

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

GFI1
Specificity
100 %
Genes
34 %
GFI1 Sequencing.

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

GFI1
Specificity
100 %
Genes
34 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA2, RUNX1, ALAS2, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, SBF2, GATA1, RPS26, RPS10 , (...)

View the complete list with 41 more genes
Specificity
4 %
Genes
67 %
Severe Congenital Neutropenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

HAX1, WAS, CSF3R, ELANE, G6PC3, VPS45, GFI1, CXCR4
Specificity
25 %
Genes
67 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ALAS2, RPL35A, HAX1, ANKRD26, FANCC, BLM, PTPN11, RPS19, TINF2, CBL, ATM, NBN , (...)

View the complete list with 59 more genes
Specificity
3 %
Genes
67 %
GFI1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

GFI1
Specificity
100 %
Genes
34 %
Severe congenital neutropenia type 2, AD (sequence analysis of GFI1 gene).

By CGC Genetics in Portugal.

GFI1
Specificity
100 %
Genes
34 %
Severe congenital neutropenia (NGS panel for 7 genes).

By CGC Genetics in Portugal.

HAX1, WAS, ELANE, G6PC3, VPS45, GFI1, JAGN1
Specificity
29 %
Genes
67 %
Hereditary neutropenia (NGS panel for 22 genes).

By CGC Genetics in Portugal.

SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
67 %
Severe Congenital Neutropenia via GFI1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GFI1
Specificity
100 %
Genes
34 %
Severe Congenital Neutropenia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4 , (...)

View the complete list with 5 more genes
Specificity
8 %
Genes
67 %
Severe Congenital Neutropenia Sequential Panel.

By FirmaLab in United States.

HAX1, WAS, ELANE, G6PC3, GFI1
Specificity
40 %
Genes
67 %
Neutropenia, severe congenital type 2, autosomal dominant.

By Centogene AG - the Rare Disease Company in Germany.

GFI1
Specificity
100 %
Genes
34 %
Neutropenia, nonimmune chronic idiopathic, of adults.

By Centogene AG - the Rare Disease Company in Germany.

GFI1
Specificity
100 %
Genes
34 %
Defects of phagocytosis Panel.

By CeGaT GmbH in Germany.

HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB , (...)

View the complete list with 39 more genes
Specificity
6 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
67 %
Invitae Phagocyte Defects Panel.

By Invitae in United States.

SLC37A4, HAX1, TAZ, SLC35C1, CYBA, PMM2, G6PD, CYBB, WAS, VPS13B, CTSC, CSF2RA, NCF2, NCF4, FERMT3, CSF3R, ELANE, G6PC3, VPS45, GFI1 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
67 %
Neutropenia, severe congenital 2 (SCN2): GFI1 gene sequence analysis.

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

GFI1
Specificity
100 %
Genes
34 %
Neutropenia.

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

HAX1, WAS, CSF3R, ELANE, G6PC3, VPS45, GFI1, RAC2, JAGN1
Specificity
23 %
Genes
67 %
Severe Congenital Neutropenia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HAX1, WAS, ELANE, G6PC3, GFI1
Specificity
40 %
Genes
67 %
GFI1.

By Fulgent Genetics Fulgent Genetics in United States.

GFI1
Specificity
100 %
Genes
34 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 255 more genes
Specificity
1 %
Genes
67 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
67 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)

View the complete list with 102 more genes
Specificity
2 %
Genes
67 %
Congenital Neutropenia Panel.

By Blueprint Genetics in Finland.

SLC37A4, HAX1, GATA2, SBDS, WAS, VPS13B, ACTB, CTSC, LYST, CSF2RA, SRP72, CSF3R, IFNGR2, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, JAGN1 , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
67 %
Severe congenital neutropenia type 2.

By Bioarray in Spain.

GFI1
Specificity
100 %
Genes
34 %
Severe Congenital Neutropenia Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

RUNX1, SLC37A4, HAX1, AP3B1, TAZ, TCIRG1, KRAS, NRAS, GATA2, SBDS, WAS, VPS13B, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, GFI1 , (...)

View the complete list with 4 more genes
Specificity
13 %
Genes
100 %
Severe Congenital Neutropenia, Nonsyndromic NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HAX1, WAS, CSF3R, ELANE, G6PC3, GFI1
Specificity
34 %
Genes
67 %
GFI1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

GFI1
Specificity
100 %
Genes
34 %
Inherited Bone Marrow Failure Panel.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA2, RUNX1, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, CEBPA, RAD51C, MPL, RTEL1, WAS, GATA1, RPS26, RPS10, RPL11 , (...)

View the complete list with 38 more genes
Specificity
4 %
Genes
67 %
Severe Congenital Neutropenia Type 2 , Sequencing GFI1 Gene.

By Reference Laboratory Genetics in Spain.

GFI1
Specificity
100 %
Genes
34 %
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 38 more genes
Specificity
4 %
Genes
67 %
Severe Congenital Neutropenia , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

HAX1, TAZ, WAS, CSF3R, ELANE, G6PC3, GFI1, LAMTOR2, RAC2
Specificity
23 %
Genes
67 %
Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

SLC37A4, HAX1, AP3B1, TAZ, GATA2, SBDS, WAS, VPS13B, GATA1, LYST, USB1, RAB27A, CSF3R, ELANE, G6PC3, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1
Specificity
10 %
Genes
67 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

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

View the complete list with 1693 more genes
Specificity
1 %
Genes
67 %
ELA2 (ELANE) Sequencing.

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

ELANE
Specificity
100 %
Genes
34 %
ELA2 (ELANE) Deletion/duplication analysis.

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

ELANE
Specificity
100 %
Genes
34 %
ELANE.

By Institute for Human Genetics University Clinic Freiburg in Germany.

ELANE
Specificity
100 %
Genes
34 %
Periodic Fever Syndromes Panel, Sequencing, 7 Genes and Deletion/Duplication, 6 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
34 %
ELANE mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

ELANE
Specificity
100 %
Genes
34 %
ELANE. Complete sequencing.

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

ELANE
Specificity
100 %
Genes
34 %
ELA2. Complete sequencing.

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

ELANE
Specificity
100 %
Genes
34 %
CHOP Comprehensive Hereditary Cancer Panel.

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

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
34 %
Cyclic neutropenia (sequence analysis of ELANE gene).

By CGC Genetics in Portugal.

ELANE
Specificity
100 %
Genes
34 %
Cyclic neutropenia (deletion/duplication analysis of ELANE gene).

By CGC Genetics in Portugal.

ELANE
Specificity
100 %
Genes
34 %
Severe congenital neutropenia (sequence analysis of ELANE gene).

By CGC Genetics in Portugal.

ELANE
Specificity
100 %
Genes
34 %
Cyclic neutropenia (deletion/duplication analysis of ELANE gene).

By CGC Genetics in Portugal.

ELANE
Specificity
100 %
Genes
34 %
Severe congenital neutropenia (sequence analysis of ELANE gene).

By CGC Genetics in Portugal.

ELANE
Specificity
100 %
Genes
34 %
Severe Congenital Neutropenia and Cyclic Neutropenia via ELANE Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ELANE
Specificity
100 %
Genes
34 %
Periodic Fever Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NLRP3, MVK, PSMB8, MEFV, NOD2, ELANE, LPIN2, TNFRSF1A, PSTPIP1, NLRP12, IL36RN, CARD14, TNFAIP3
Specificity
8 %
Genes
34 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

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

View the complete list with 494 more genes
Specificity
1 %
Genes
34 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

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

View the complete list with 494 more genes
Specificity
1 %
Genes
34 %
Neutropenia, severe congenital type 1.

By Centogene AG - the Rare Disease Company in Germany.

ELANE
Specificity
100 %
Genes
34 %
Single gene testing ELANE.

By CeGaT GmbH in Germany.

ELANE
Specificity
100 %
Genes
34 %
ELANE-related neutropenia, ELANE (ELA2) sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

ELANE
Specificity
100 %
Genes
34 %
ELANE Sequence Analysis.

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

ELANE
Specificity
100 %
Genes
34 %
aCGH Deletion/Duplication Analysis.

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

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

View the complete list with 45 more genes
Specificity
2 %
Genes
34 %
Invitae Bone Marrow Failure Syndromes Panel.

By Invitae in United States.

BRCA2, RUNX1, RPL35A, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, WAS, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
34 %
Invitae ELANE-Related Neutropenia Test.

By Invitae in United States.

ELANE
Specificity
100 %
Genes
34 %
Invitae Periodic Fever Syndromes Panel.

By Invitae in United States.

NLRP3, MVK, PSMB8, MEFV, ELANE, LPIN2, TNFRSF1A, NLRC4, ADA2, PSTPIP1, NLRP12, TRNT1
Specificity
9 %
Genes
34 %
Invitae Autoinflammatory Syndromes Panel.

By Invitae in United States.

NLRP3, MVK, PSMB8, MEFV, SH3BP2, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, IL10RA, NLRC4, IL10RB, ADA2, PSTPIP1, NLRP12, TRNT1, IL36RN, CARD14, IL1RN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
Neutropenia, Severe congenital type 1 (SCN1): ELA2 gene sequence analysis.

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

ELANE
Specificity
100 %
Genes
34 %
ONCOLOGY, PANEL.

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

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, KIF1B, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
34 %
Periodic fever syndromes.

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

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
34 %
Hereditary Periodic Fever Syndromes: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
34 %
Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
34 %
Periodic Fevers Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
34 %
ELANE.

By Fulgent Genetics Fulgent Genetics in United States.

ELANE
Specificity
100 %
Genes
34 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
34 %
Autoinflammatory Syndrome Panel.

By Blueprint Genetics in Finland.

SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, NLRP3, MVK, PSMB8, IFIH1, ADAR, MEFV, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, NLRC4, ISG15, PSTPIP1, NLRP12 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
34 %
Autosomal dominant severe congenital neutropenia.

By Bioarray in Spain.

ELANE
Specificity
100 %
Genes
34 %
Severe congenital neutropenia type 1.

By Bioarray in Spain.

ELANE
Specificity
100 %
Genes
34 %
Cyclic neutropenia.

By Bioarray in Spain.

ELANE
Specificity
100 %
Genes
34 %
Periodic Fever NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

NLRP3, MVK, MEFV, NOD2, ELANE, LPIN2, TNFRSF1A, PSTPIP1, NLRP12
Specificity
12 %
Genes
34 %
ELANE Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

ELANE
Specificity
100 %
Genes
34 %
CYCLIC NEUTROPENIA.

By Laboratorio de Genetica Clinica SL in Spain.

ELANE
Specificity
100 %
Genes
34 %
Severe Congenital Neutropenia Type 1 , Sequencing ELANE (ELA2) Gene.

By Reference Laboratory Genetics in Spain.

ELANE
Specificity
100 %
Genes
34 %
Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

NLRP3, MVK, MEFV, ELANE, LPIN2, TNFRSF1A, PSTPIP1
Specificity
15 %
Genes
34 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

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

View the complete list with 617 more genes
Specificity
1 %
Genes
34 %
TCIRG1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

TCIRG1
Specificity
100 %
Genes
34 %
TCIRG1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TCIRG1
Specificity
100 %
Genes
34 %
TCIRG1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TCIRG1
Specificity
100 %
Genes
34 %
TCIRG1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TCIRG1
Specificity
100 %
Genes
34 %
TCIRG1 Sequencing.

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

TCIRG1
Specificity
100 %
Genes
34 %
TCIRG1 Deletion/duplication analysis.

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

TCIRG1
Specificity
100 %
Genes
34 %
TCIRG1. Complete sequencing.

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

TCIRG1
Specificity
100 %
Genes
34 %
Osteopetrosis (sequence analysis of TCIRG1 gene).

By CGC Genetics in Portugal.

TCIRG1
Specificity
100 %
Genes
34 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
34 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
34 %
Osteopetrosis via the TCIRG1 Gene.

By PreventionGenetics PreventionGenetics in United States.

TCIRG1
Specificity
100 %
Genes
34 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
34 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
34 %
Osteopetrosis core NGS panel.

By Connective Tissue Gene Tests in United States.

CLCN7, OSTM1, TCIRG1
Specificity
34 %
Genes
34 %
Osteopetrosis core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CLCN7, OSTM1, TCIRG1
Specificity
34 %
Genes
34 %
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
Osteopetrosis core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CLCN7, OSTM1, TCIRG1
Specificity
34 %
Genes
34 %
Osteopetrosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

LRP5, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, FERMT3, PLEKHM1, SNX10
Specificity
8 %
Genes
34 %
Osteopetrosis and Dense bone dysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
Osteopetrosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

LRP5, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, FERMT3, PLEKHM1, SNX10
Specificity
8 %
Genes
34 %
Osteopetrosis and Dense bone dysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, GJA1, FERMT3, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
Osteopetrosis NGS panel.

By Connective Tissue Gene Tests in United States.

LRP5, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, FERMT3, PLEKHM1, SNX10
Specificity
8 %
Genes
34 %
Osteopetrosis, autosomal recessive 1 NGS test.

By Connective Tissue Gene Tests in United States.

TCIRG1
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal recessive 1 Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TCIRG1
Specificity
100 %
Genes
34 %
Osteopetrosis, autosomal recessive 1 Comprehensive test.

By Connective Tissue Gene Tests in United States.

TCIRG1
Specificity
100 %
Genes
34 %
Osteopetrosis autosomal recessive type 1.

By Centogene AG - the Rare Disease Company in Germany.

TCIRG1
Specificity
100 %
Genes
34 %
Skeletal dysplasia with increased bone density Panel.

By CeGaT GmbH in Germany.

ANKH, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, DHCR24, TBXAS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
Osteopetrosis: TCIRG1 gene sequence analysis.

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

TCIRG1
Specificity
100 %
Genes
34 %
OSTEOPETROSIS.

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

LRP5, TNFRSF11A, CLCN7, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
13 %
Genes
34 %
Skeletal Dysplasia With Increased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, CTSK, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, FERMT3, TBXAS1, LRP4, GALNT3, HPGD , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
34 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 484 more genes
Specificity
1 %
Genes
34 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
34 %
TCIRG1.

By Fulgent Genetics Fulgent Genetics in United States.

TCIRG1
Specificity
100 %
Genes
34 %
Osteopetrosis and Dense Bone Dysplasia Panel.

By Blueprint Genetics in Finland.

ANKH, TYROBP, LRP5, COL1A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, AMER1, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, TNFRSF11B, PTH1R, GJA1, SLC29A3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
34 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
34 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
34 %
Autosomal recessive malignant osteopetrosis.

By Bioarray in Spain.

TCIRG1
Specificity
100 %
Genes
34 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
34 %
TCIRG1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

TCIRG1
Specificity
100 %
Genes
34 %
Osteopetrosis NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

LRP5, TNFRSF11A, CLCN7, CA2, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
12 %
Genes
34 %
Autosomal Recessive Osteopetrosis (TCIRG1) Targeted Testing.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

TCIRG1
Specificity
100 %
Genes
34 %
OSTEOPETROSIS, AUTOSOMAL RECESSIVE.

By Laboratorio de Genetica Clinica SL in Spain.

TNFRSF11A, CLCN7, CA2, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
13 %
Genes
34 %
Infantile Malignant Osteopetrosis , Sequencing TCIRG1 Gene.

By Reference Laboratory Genetics in Spain.

TCIRG1
Specificity
100 %
Genes
34 %
Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

LRP5, TNFRSF11A, CLCN7, CA2, OSTM1, TNFSF11, TCIRG1, PLEKHM1, SNX10
Specificity
12 %
Genes
34 %


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