Hypocalcemia, Autosomal Dominant 1; Hypoc1

Description

Autosomal dominant hypocalcemia-1 is associated with low or normal serum parathyroid hormone concentrations (PTH). Approximately 50% of patients have mild or asymptomatic hypocalcemia; about 50% have paresthesias, carpopedal spasm, and seizures; about 10% have hypercalciuria with nephrocalcinosis or kidney stones; and more than 35% have ectopic and basal ganglia calcifications (summary by Nesbit et al., 2013).Thakker (2001) noted that patients with gain-of-function mutations in the CASR gene, resulting in generally asymptomatic hypocalcemia with hypercalciuria, have low-normal serum PTH concentrations and have often been diagnosed with hypoparathyroidism because of the insensitivity of earlier PTH assays. Because treatment with vitamin D to correct the hypocalcemia in these patients causes hypercalciuria, nephrocalcinosis, and renal impairment, these patients need to be distinguished from those with other forms of hypoparathyroidism (see {146200}). Thakker (2001) suggested the designation 'autosomal dominant hypocalcemic hypercalciuria' for this CASR-related disorder. Genetic Heterogeneity of Autosomal Dominant HypocalcemiaAutosomal dominant hypocalcemia-2 (HYPOC2 ) is caused by mutation in the GNA11 gene (OMIM ) on chromosome 19p13.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypocalcemia, Autosomal Dominant 1; Hypoc1

  • Seizures
  • Short stature
  • Milia
  • Optic atrophy
  • Arrhythmia
  • Behavioral abnormality
  • Fatigue
  • Congestive heart failure
  • Depressivity
  • Alopecia
And another 35 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.


Mendelian

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Hypocalcemia, Autosomal Dominant 1; Hypoc1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Uveal Melanoma-Related NGS Gene Panel: GNAQ, GNA11 and BAP1.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.

BAP1, GNAQ, GNA11
Specificity
34 %
Genes
50 %
Somatic Overgrowth Gene Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine in United States.

MTOR, PIK3CA, AKT2, GNAQ, GNA11, PIK3R2, AKT3, AKT1
Specificity
13 %
Genes
50 %
Hyperparathyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RET, MEN1, CDC73, CASR, PTH1R, CDKN1B, GNA11, AP2S1
Specificity
25 %
Genes
100 %
Hypoparathyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

HADHA, CYP24A1, HADHB, AIRE, CHD7, PRKAR1A, CASR, TBX1, GATA3, GNAS, GNA11, PDE4D, STX16, PTH, GCM2, FAM111A, TBCE
Specificity
12 %
Genes
100 %
Hypoparathyroidism sequencing panel.

By Genetic Services Laboratory University of Chicago in United States.

HADHA, CYP24A1, HADHB, AIRE, PRKAR1A, CASR, TBX1, GATA3, GNAS, GNA11, PDE4D, STX16, PTH, GCM2, FAM111A, TBCE, CDH7
Specificity
12 %
Genes
100 %
Hyperparathyroidism Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RET, MEN1, CDC73, CASR, PTH1R, CDKN1B, GNA11, AP2S1
Specificity
25 %
Genes
100 %
GNA11.

By Institute for Human Genetics University Clinic Freiburg in Germany.

GNA11
Specificity
100 %
Genes
50 %
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)

View the complete list with 29 more genes
Specificity
5 %
Genes
100 %
Familial hypocalciuric hypercalcemia type 2 (sequence analysis of GNA11 gene).

By CGC Genetics in Portugal.

GNA11
Specificity
100 %
Genes
50 %
Uveal Melanoma Genetic Prognostic Test.

By Impact Genetics Impact Genetics in Canada.

GNAQ, GNA11
Specificity
50 %
Genes
50 %
Hypercalcemic and Hypocalcemic Disorders via the GNA11 Gene.

By PreventionGenetics PreventionGenetics in United States.

GNA11
Specificity
100 %
Genes
50 %
Hypoparathyroidism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HADHA, HADHB, AIRE, CASR, GATA3, PTH1R, SOX3, GNAS, GNA11, AP2S1, STX16, PTH, GCM2, FAM111A, TBCE
Specificity
14 %
Genes
100 %
Familial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CASR, GNA11, AP2S1
Specificity
67 %
Genes
100 %
Nephrolithiasis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
100 %
Nephrolithiasis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
100 %
Nephrolithiasis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
100 %
Bartter syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

CASR, SLC12A3, BSND, CLCNKB, KCNJ1, SLC12A1, CLCNKA, GNA11, MAGED2
Specificity
23 %
Genes
100 %
Bartter syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CASR, SLC12A3, BSND, CLCNKB, KCNJ1, SLC12A1, CLCNKA, GNA11, MAGED2
Specificity
23 %
Genes
100 %
Bartter syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CASR, SLC12A3, BSND, CLCNKB, KCNJ1, SLC12A1, CLCNKA, GNA11, MAGED2
Specificity
23 %
Genes
100 %
Custom solid tumor gene sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

APC, PTEN, TP53, FOXL2, TYRP1, RET, RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, CDK4, CDKN2A, MET, NF1, GRIN2A, HGF, ERCC2, CTNNB1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Melanoma, somatic mutation sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

BRAF, NRAS, KIT, GNAQ, GNA11
Specificity
20 %
Genes
50 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, GNAT2, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
50 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

VHL, APC, MLH1, PTEN, TP53, RB1, RET, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, TSC1, ALK, ATM , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
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
100 %
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
100 %
Hypocalcemia, autosomal dominant 2.

By Centogene AG - the Rare Disease Company in Germany.

GNA11
Specificity
100 %
Genes
50 %
Bartter Syndrome Panel.

By CeGaT GmbH in Germany.

CASR, SLC12A3, BSND, CLCNKB, KCNJ1, SLC12A1, CLCNKA, GNA11
Specificity
25 %
Genes
100 %
Single gene testing GNA11.

By CeGaT GmbH in Germany.

GNA11
Specificity
100 %
Genes
50 %
Skeletal dysplasia with abnormal mineralization Panel.

By CeGaT GmbH in Germany.

ALPL, ANKH, SLC34A1, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, GNA11, AP2S1, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
13 %
Genes
100 %
Hypercalcemia (FHH), Familial hypocalciuric: GNA11 gene sequence analysis.

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

GNA11
Specificity
100 %
Genes
50 %
Hypocalcemia autosomal dominant 2: GNA11 gene sequence analysis.

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

GNA11
Specificity
100 %
Genes
50 %
Hypocalciuric hypercalcemia: CASR, GNA11, and AP2S1 genes sequence analysis.

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

CASR, GNA11, AP2S1
Specificity
67 %
Genes
100 %
Hyperparathyroidism Panel.

By Blueprint Genetics in Finland.

RET, MEN1, AIRE, CDC73, CASR, CDKN1B, GNA11, AP2S1, PTH, GCM2, CDKN2B, CDKN2C, CDKN1A
Specificity
16 %
Genes
100 %
Bartter Syndrome Panel.

By Blueprint Genetics in Finland.

CASR, SLC12A3, BSND, CLCNKB, KCNJ1, SLC12A1, CLCNKA, GNA11, AP2S1
Specificity
23 %
Genes
100 %
Nephrolithiasis Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, MOCS1, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
100 %
Focus::Oncomine™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, CTNNB1, MTOR, ERBB3, KIT, JAK3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Somatic Overgrowth Gene Set.

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

PTEN, IDH2, TSC2, TSC1, RASA1, MTOR, PIK3CA, AKT2, GNAQ, IDH1, GNA11, PIK3R2, AKT3, AKT1, SMO
Specificity
7 %
Genes
50 %
Nevus Gene Set.

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

FGFR3, HRAS, KRAS, NRAS, PIK3CA, GNAQ, GNA11
Specificity
15 %
Genes
50 %
Melanoma Gene Set.

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

PTEN, TP53, RB1, RET, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, CDKN2A, MET, NF1, FGFR1, KMT2D, MED12 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
50 %
Guardant360.

By Guardant Health in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
50 %
Comprehensive Panel for Individualized Cancer Threatment.

By GeneKor MSA in Greece.

VHL, APC, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, CDKN2A , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
50 %
Cancer Hotspot Analysis.

By Advanced Technology Laboratory Spectrum Health in United States.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Circulo Melanoma.

By Circulogene Theranostics in United States.

GNA11
Specificity
100 %
Genes
50 %
NeoTYPE® Discovery Profile for Solid Tumors.

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

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
50 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
50 %
HYPOCALCEMIA (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

CASR, GNA11
Specificity
100 %
Genes
100 %
HYPOPARATHYROIDISM.

By Laboratorio de Genetica Clinica SL in Spain.

CASR, GNA11, PTH, GCM2
Specificity
50 %
Genes
100 %
FAMILIAL HYPOCALCIURIC HYPERCALCEMIATYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

GNA11
Specificity
100 %
Genes
50 %
Solid Tumor Targeted Mutation and Fusion Panel.

By Providence Regional Laboratories Providence Health and Services in United States.

PPARG, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, NTRK1, FGFR1, CTNNB1, MTOR , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Autosomal Dominant Hypocalcemia Type 2 , Sequencing GNA11 Gene.

By Reference Laboratory Genetics in Spain.

GNA11
Specificity
100 %
Genes
50 %
Familial Hypocalciuric Hypercalcemia (FHH) , Panel Massive Sequencing AP2S1, CASR, GNA11 Genes.

By Reference Laboratory Genetics in Spain.

CASR, GNA11, AP2S1
Specificity
67 %
Genes
100 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
50 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
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
50 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11, CDKN2A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
Familial Hypocalciuric Hypercalcemia (CASR) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

CASR
Specificity
100 %
Genes
50 %
CASR DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

CASR
Specificity
100 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc in United States.

ALPL, ADSL, SLC25A19, LIAS, ABAT, GAMT, GATM, SUCLA2, ALG9, GLDC, AMT, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, SLC6A8, CHRNA7, PCDH19, SLC2A1, PHGDH , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
50 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MTHFR, UBE3A, ADSL, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3, ARX , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
50 %
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MTHFR, UBE3A, BTD, ADSL, MMACHC, ADGRV1, POLG, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
50 %
Pancreas Panel.

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

CFTR, SBDS, CEL, CASR, SPINK1, PRSS1, CTRC, CPA1, CLDN2, UBR1
Specificity
10 %
Genes
50 %
Pancreas Panel Deletion/duplication Analysis.

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

CFTR, CASR, SPINK1, CTRC
Specificity
25 %
Genes
50 %
CASR-Related Disorders.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

CASR
Specificity
100 %
Genes
50 %
CASR-Related Familial Isolated Hypoparathyroidism.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

CASR
Specificity
100 %
Genes
50 %
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

CASR
Specificity
100 %
Genes
50 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, CASR, PHEX, FGF23, PLS3, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
CASR. Complete sequencing.

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

CASR
Specificity
100 %
Genes
50 %
Pancreatitis Del/Dup Panel.

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

CFTR, CASR, SPINK1, CTRC
Specificity
25 %
Genes
50 %
Pancreatitis Seq Analysis.

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

CFTR, CASR, SPINK1, PRSS1, CTRC
Specificity
20 %
Genes
50 %
Pancreatitis Seq + Del/Dup Panel.

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

CFTR, CASR, SPINK1, PRSS1, CTRC
Specificity
20 %
Genes
50 %
Hyperparathyroidism (sequence analysis of CASR gene).

By CGC Genetics in Portugal.

CASR
Specificity
100 %
Genes
50 %
Hypocalciuric hypercalcemia type I (deletion/duplication analysis of CASR gene).

By CGC Genetics in Portugal.

CASR
Specificity
100 %
Genes
50 %
Hypocalciuric hypercalcemia type I (sequence analysis of CASR gene).

By CGC Genetics in Portugal.

CASR
Specificity
100 %
Genes
50 %
Hypomagnesemia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

HNF1B, SARS2, CASR, SLC12A3, BSND, CLCNKB, KCNA1, KCNJ10, PCBD1, EGFR, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
6 %
Genes
50 %
Hypomagnesemia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

HNF1B, SARS2, CASR, SLC12A3, BSND, CLCNKB, KCNA1, KCNJ10, PCBD1, EGFR, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
6 %
Genes
50 %
Familial benign hypercalcemia.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CASR
Specificity
100 %
Genes
50 %
Hypocalcemia, autosomal dominant.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CASR
Specificity
100 %
Genes
50 %
Hypocalcemia, autosomal dominant.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CASR
Specificity
100 %
Genes
50 %
Hypocalcemia, autosomal dominant.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CASR
Specificity
100 %
Genes
50 %
Hypocalciuric hypercalcemia, type I.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CASR
Specificity
100 %
Genes
50 %
Epilepsy, idiopathic generalized, susceptibility to, 8.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CASR
Specificity
100 %
Genes
50 %
Test for CASR-Related Disorders.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CASR
Specificity
100 %
Genes
50 %
CASR-Related Disorders.

By Exeter Molecular Genetics Laboratory in United Kingdom.

CASR
Specificity
100 %
Genes
50 %
Hypercalcemic and Hypocalcemic Disorders via CASR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CASR
Specificity
100 %
Genes
50 %
Hypomagnesemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HNF1B, SARS2, CASR, SLC12A3, BSND, KCNA1, KCNJ10, PCBD1, EGFR, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
7 %
Genes
50 %
Chronic Pancreatitis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CFTR, CASR, SPINK1, PRSS1, CTRC
Specificity
20 %
Genes
50 %
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
50 %
Abnormal mineralization disorders Comprehensive Panel.

By Connective Tissue Gene Tests in United States.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
50 %
Abnormal mineralization disorders Deletion/ Duplication Panel.

By Connective Tissue Gene Tests in United States.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
50 %
Abnormal mineralization disorders NGS panel.

By Connective Tissue Gene Tests in United States.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
50 %
Hypercalciuric hypercalcemia.

By Institute of Human Genetics Cologne University in Germany.

CASR
Specificity
100 %
Genes
50 %
Hypocalcemia with Hypercalciuria.

By Institute of Human Genetics Cologne University in Germany.

CASR
Specificity
100 %
Genes
50 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
50 %
CASR.

By MGZ Medical Genetics Center in Germany.

CASR
Specificity
100 %
Genes
50 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
50 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
50 %
Progressive Myoclonic Epilepsy.

By MGZ Medical Genetics Center in Germany.

POLG, GLDC, HEXA, HEXB, TPP1, CLN3, NPC1, NPC2, CLN6, PPT1, CLN5, CSTB, SGCE, CASR, CACNB4, EFHC1, GOSR2, NHLRC1, KCTD7, PRICKLE1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
50 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
50 %
CASR-Related Disorders.

By Bioscientia GmbH Center for Human Genetics in Germany.

CASR
Specificity
100 %
Genes
50 %
IGE/JME/CAE panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ME2, SLC2A1, CASR, CACNB4, CACNA1H, EFHC1, GABRB3, GABRD, GABRA1, CLCN2, BRD2
Specificity
10 %
Genes
50 %
Bartter Syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Bartter syndrome CASR related.

By Centogene AG - the Rare Disease Company in Germany.

CASR
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
50 %
Idiopathic Generalized and Focal Epilepsy Panel.

By CeGaT GmbH in Germany.

AMACR, ME2, ALDH7A1, SLC2A1, SCN1A, CACNA1A, CASR, KCNA1, CACNB4, SLC1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
50 %
Single gene testing CASR.

By CeGaT GmbH in Germany.

CASR
Specificity
100 %
Genes
50 %
CASR-Related Disorders.

By GGA - Galil Genetic Analysis in Israel.

CASR
Specificity
100 %
Genes
50 %
CASR-Related Disorders.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

CASR
Specificity
100 %
Genes
50 %
Familial Hypocalciuric Hypercalcemia.

By Asper Biogene Asper Biogene LLC in Estonia.

CASR
Specificity
100 %
Genes
50 %
CASR-Related Disorders.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

CASR
Specificity
100 %
Genes
50 %
Epilepsy, idiopathic generalized, 8.

By Praxis fuer Humangenetik Wien in Austria.

CASR
Specificity
100 %
Genes
50 %
Hyperparathyroidism.

By Praxis fuer Humangenetik Wien in Austria.

CASR
Specificity
100 %
Genes
50 %
Hypocalcemia, autosomal dominant.

By Praxis fuer Humangenetik Wien in Austria.

CASR
Specificity
100 %
Genes
50 %
Hypocalciuric hypercalcemia, type I.

By Praxis fuer Humangenetik Wien in Austria.

CASR
Specificity
100 %
Genes
50 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
50 %
Epilepsy, idiopathic generalized, 8.

By MedGene in Slovakia.

CASR
Specificity
100 %
Genes
50 %
Hyperparathyroidism.

By MedGene in Slovakia.

CASR
Specificity
100 %
Genes
50 %
Hypocalcemia, autosomal dominant.

By MedGene in Slovakia.

CASR
Specificity
100 %
Genes
50 %
Hypocalciuric hypercalcemia, type I.

By MedGene in Slovakia.

CASR
Specificity
100 %
Genes
50 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
50 %
Invitae Hyperparathyroidism Panel.

By Invitae in United States.

RET, MEN1, CDC73, CASR, CDKN1B
Specificity
20 %
Genes
50 %
Invitae Chronic Pancreatitis Panel.

By Invitae in United States.

CFTR, CASR, SPINK1, PRSS1, CTRC
Specificity
20 %
Genes
50 %
Invitae CASR-Related Conditions Test.

By Invitae in United States.

CASR
Specificity
100 %
Genes
50 %
Hypercalcemia (FHH), Familial hypocalciuric: CASR gene sequence analysis.

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

CASR
Specificity
100 %
Genes
50 %
Hypoparatiroidism, Familial: CASR gene sequence analysis.

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

CASR
Specificity
100 %
Genes
50 %
Hypercalcemia (FHH), Familial hypocalciuric: CASR gene deletions-duplications analysis (MLPA).

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

CASR
Specificity
100 %
Genes
50 %
Hypocalcemia, autosomal dominant 1: CASR gene sequence analysis.

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

CASR
Specificity
100 %
Genes
50 %
Hypoparatiroidism, Familial: CASR gene deletions-duplications analysis (MLPA).

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

CASR
Specificity
100 %
Genes
50 %
BARTTER SYNDROME.

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

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
HEREDITARY PANCREATITIS.

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

CFTR, CASR, SPINK1, PRSS1, CTRC
Specificity
20 %
Genes
50 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
50 %
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, TNFRSF11A, PYCR1, ATP6V0A2, SP7, P3H1, CRTAP, PLOD2, PPIB, LMNA, CASR, PHEX , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
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
50 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
50 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
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
50 %
Chronic Pancreatitis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CFTR, CASR, SPINK1, PRSS1, CTRC
Specificity
20 %
Genes
50 %
CASR.

By Fulgent Genetics Fulgent Genetics in United States.

CASR
Specificity
100 %
Genes
50 %
Idiopathic Generalized Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, ADSL, HSD17B10, ME2, MECP2, STXBP1, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, PLP1, SLC2A1, SYNGAP1, SMC1A, GPC3, CSTB, SCN1A , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
50 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
50 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
50 %
Hypomagnesemia Panel.

By Blueprint Genetics in Finland.

HNF1B, SARS2, CASR, SLC12A3, BSND, CLCNKB, KCNA1, KCNJ10, MAGT1, CNNM4, PCBD1, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF, NIPA2
Specificity
6 %
Genes
50 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
50 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
50 %
Idiopathic Generalized and Focal Epilepsy Panel.

By Blueprint Genetics in Finland.

AMACR, POLG, ALDH7A1, SLC2A1, SCN1A, CASR, KCNA1, CACNB4, CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B, SLC6A1, KCNT1, KCNQ2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
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
50 %
Skeletal Dysplasia with Abnormal Mineralization Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, B4GALT7, COL1A1, COL1A2, COL3A1, TNFRSF11A, FBN1, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, TNFRSF11B, COL5A1, COL5A2, VDR , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
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
50 %
Familial hypocalciuric hypercalcemia.

By Bioarray in Spain.

CASR
Specificity
100 %
Genes
50 %
FAMILIAL HYPOCALCIURIC HYPERCALCEMIATYPE 1.

By Laboratorio de Genetica Clinica SL in Spain.

CASR
Specificity
100 %
Genes
50 %
Autosomal Dominant Hypocalcemia , Sequencing CASR Gene.

By Reference Laboratory Genetics in Spain.

CASR
Specificity
100 %
Genes
50 %
Familial Hypocalciuric Hypercalcemia(HBF), Sequencing CASR Gene.

By Reference Laboratory Genetics in Spain.

CASR
Specificity
100 %
Genes
50 %
Familial Hypoparathyroidism , Sequencing CASR Gene.

By Reference Laboratory Genetics in Spain.

CASR
Specificity
100 %
Genes
50 %
Familial Hypocalciuric Hypercalcemia (FHH) Type 1 , Deletions-Duplications (MLPA) CASR Gene.

By Reference Laboratory Genetics in Spain.

CASR
Specificity
100 %
Genes
50 %
Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes.

By Reference Laboratory Genetics in Spain.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, NR3C2, KLHL3, SLC4A1, WNK4, CLDN16 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

HNF1B, SARS2, CASR, SLC12A3, CLCNKB, KCNA1, KCNJ10, PCBD1, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
8 %
Genes
50 %
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, FAM20C, VDR, CTNS, CASR, HNF4A, PHEX, FGF23, TJP2, PTH1R, ABCC6, SLC4A1, ATP6V0A4, BAAT , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
Hypocalcemia, autosomal dominant 1.

By Labor Dr. Wisplinghoff in Germany.

CASR
Specificity
100 %
Genes
50 %
Neonatal severe hyperparathyroidism.

By Labor Dr. Wisplinghoff in Germany.

CASR
Specificity
100 %
Genes
50 %
Hypocalciuric hypercalcemia, familial, type 1.

By Labor Dr. Wisplinghoff in Germany.

CASR
Specificity
100 %
Genes
50 %
Phosphorus Pancreatic Cancer including Chronic Pancreatitis Genes Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, TP53, MEN1, CFTR, TSC2, TSC1, ATM, PALB2, STK11, CDKN2A, BMPR1A, SMAD4 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
50 %

Alternate names

Hypocalcemia, Autosomal Dominant 1; Hypoc1 Is also known as hypercalciuric hypocalcemia, hypocalcemia, familial;ad hypocalcemia.


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