Hypophosphatasia, Childhood

Description

Hypophosphatasia is an inborn error of metabolism characterized clinically by defective bone mineralization and biochemically by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. Fraser (1957) classified forms of hypophosphatasia according to age of onset: perinatal (see {241500}), infantile (OMIM ), childhood, and adult (OMIM ). Whyte (1988) indicated a fifth form of hypophosphatasia with primarily only dental manifestations, referred to as odontohypophosphatasia (see {241500}). All of these forms are allelic.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypophosphatasia, Childhood

  • Seizures
  • Short stature
  • Myopathy
  • Frontal bossing
  • Abnormality of the skeletal system
  • Osteoporosis
  • Proptosis
  • Craniosynostosis
  • Dolichocephaly
  • Carious teeth
And another 10 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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Hypophosphatasia, Childhood Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ALPL Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ALPL
Specificity
100 %
Genes
100 %
ALPL Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ALPL
Specificity
100 %
Genes
100 %
ALPL Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ALPL
Specificity
100 %
Genes
100 %
ALPL Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

ALPL
Specificity
100 %
Genes
100 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

ALPL, FKBP10, B4GALT7, IFITM5, COL1A1, COL1A2, COL3A1, SLC34A1, TNFRSF11A, FBN1, SERPINF1, SP7, PLOD3, SLC39A13, SLC9A3R1, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
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
100 %
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
100 %
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Hypophosphatasia.

By Collagen Diagnostic Laboratory University of Washington in United States.

ALPL
Specificity
100 %
Genes
100 %
Craniosynostosis.

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

RECQL4, ALPL, FBN1, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, ASXL1, MASP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
ALPL Sequencing.

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

ALPL
Specificity
100 %
Genes
100 %
Hypophosphatemic Rickets Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALPL, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
10 %
Genes
100 %
Hypophosphatemic Rickets Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALPL, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
10 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes).

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

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal.

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

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
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
100 %
Hypohosphatasia.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

ALPL
Specificity
100 %
Genes
100 %
ALPL. Sequencing of the exons 6, 9, 10 and 11.

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

ALPL
Specificity
100 %
Genes
100 %
ALPL. Complete sequencing.

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

ALPL
Specificity
100 %
Genes
100 %
COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS.

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

ALPL, COL2A1, COL1A1, COL1A2, CRTAP, FGFR3, SLC26A2, SOX9
Specificity
13 %
Genes
100 %
Craniofacial Del/Dup Panel.

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

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq + Del/Dup Panel.

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

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq Analysis.

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

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Skeletal dysplasia (NGS panel for 31 genes).

By CGC Genetics in Portugal.

ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics in Portugal.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, SCARF2, ALX4, EFNB1, MASP1, IL11RA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Hypophosphatasia, perinatal lethal (sequence analysis of ALPL gene).

By CGC Genetics in Portugal.

ALPL
Specificity
100 %
Genes
100 %
Rickets (NGS panel for 10 genes).

By CGC Genetics in Portugal.

ALPL, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
10 %
Genes
100 %
Hypophosphatasia (sequence analysis of ALPL gene).

By CGC Genetics in Portugal.

ALPL
Specificity
100 %
Genes
100 %
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
100 %
Hypophosphatasia via ALPL Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL
Specificity
100 %
Genes
100 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
6 %
Genes
100 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, PHEX, FGF23, PLS3, TMEM38B, BMP1, WNT1, SERPINH1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, CYP27B1, PHEX, FGF23, ENPP1, SLC34A3, DMP1
Specificity
15 %
Genes
100 %
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
100 %
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
100 %
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
100 %
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Skeletal dysplasia core & extended Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Osteogenesis imperfecta Comprehensive panel - Dominant.

By Connective Tissue Gene Tests in United States.

ALPL, IFITM5, COL1A1, COL1A2, ANO5, PLS3, P4HB
Specificity
15 %
Genes
100 %
Osteogenesis imperfecta Deletion / Duplication panel - Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
6 %
Genes
100 %
Skeletal dysplasia core & extended Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Skeletal dysplasia core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, SOX9, NKX3-2, TRIP11, INPPL1
Specificity
10 %
Genes
100 %
Skeletal dysplasia core NGS panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, SOX9, NKX3-2, TRIP11, INPPL1
Specificity
10 %
Genes
100 %
Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Osteogenesis imperfecta NGS panel - Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
6 %
Genes
100 %
Skeletal dysplasia core & extended NGS panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Osteogenesis imperfecta Deletion / Duplication panel - Dominant.

By Connective Tissue Gene Tests in United States.

ALPL, IFITM5, COL1A1, COL1A2, ANO5, PLS3, P4HB
Specificity
15 %
Genes
100 %
Osteogenesis imperfecta NGS panel - Dominant.

By Connective Tissue Gene Tests in United States.

ALPL, IFITM5, COL1A1, COL1A2, ANO5, PLS3, P4HB
Specificity
15 %
Genes
100 %
Osteogenesis imperfecta Comprehensive panel - Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
6 %
Genes
100 %
Skeletal dysplasia core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, SOX9, NKX3-2, TRIP11, INPPL1
Specificity
10 %
Genes
100 %
Osteogenesis imperfecta NGS panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Hypophosphatasia, infantile, childhood & adult types Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

ALPL
Specificity
100 %
Genes
100 %
Hypophosphatasia, infantile, childhood & adult types Comprehensive Test.

By Connective Tissue Gene Tests in United States.

ALPL
Specificity
100 %
Genes
100 %
Hypophosphatasia, infantile, childhood & adult types.

By Connective Tissue Gene Tests in United States.

ALPL
Specificity
100 %
Genes
100 %
Hypophosphatasia.

By Institute of Human Genetics Cologne University in Germany.

ALPL
Specificity
100 %
Genes
100 %
Osteogenesis imperfecta and osteoporosis - different panels.

By Institute of Human Genetics Cologne University in Germany.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
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
100 %
Alkaline phosphatase, liver (ALPL) deficiency..

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

ALPL
Specificity
100 %
Genes
100 %
Hypophosphatasia, adult.

By Centogene AG - the Rare Disease Company in Germany.

ALPL
Specificity
100 %
Genes
100 %
Hypophosphatasia, childhood.

By Centogene AG - the Rare Disease Company in Germany.

ALPL
Specificity
100 %
Genes
100 %
Hypophosphatasia, infantile.

By Centogene AG - the Rare Disease Company in Germany.

ALPL
Specificity
100 %
Genes
100 %
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 %
Potentially lethal skeletal disorders Panel.

By CeGaT GmbH in Germany.

ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
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
7 %
Genes
100 %
Single gene testing ALPL.

By CeGaT GmbH in Germany.

ALPL
Specificity
100 %
Genes
100 %
Skeletal Dysplasia.

By Asper Biogene Asper Biogene LLC in Estonia.

ALPL, COL2A1, FGFR3, FGFR2, SLC26A2, SOX9, WNT5A, ESCO2, ROR2, TRIP11
Specificity
10 %
Genes
100 %
Hypophosphatasia.

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

ALPL
Specificity
100 %
Genes
100 %
ALPL.

By Division Human Genetics Medical University Innsbruck in Austria.

ALPL
Specificity
100 %
Genes
100 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Hypophosphatasia: ALPL gene sequence analysis.

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

ALPL
Specificity
100 %
Genes
100 %
Skeletal dysplasias.

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

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
NGS panel - Osteogenesis Imperfecta and related disorders.

By Genome Diagnostics VU University Medical Center in Netherlands.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TAPT1, TMEM38B, BMP1, WNT1, SERPINH1, CREB3L1
Specificity
6 %
Genes
100 %
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
100 %
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
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Hypophosphatasia.

By Integrated Genetics Westborough Integrated Genetics in United States.

ALPL
Specificity
100 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
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
100 %
ALPL.

By Fulgent Genetics Fulgent Genetics in United States.

ALPL
Specificity
100 %
Genes
100 %
Hypophosphatemic Rickets Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, FAH, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1, KL
Specificity
8 %
Genes
100 %
Osteogenesis Imperfecta Panel.

By Blueprint Genetics in Finland.

ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PHEX, FGF23, MBTPS2, PLS3, SPARC, TMEM38B, BMP1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Facial Dysostosis and Related Disorders Panel.

By Blueprint Genetics in Finland.

ALPL, DHODH, CREBBP, HDAC8, SMC3, SMC1A, NIPBL, HSPG2, POLR1C, TCOF1, POLR1D, EHMT1, UBE2A, TWIST1, ALX4, EP300, EFNB1, EFTUD2, EVC, EVC2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, PAX3, EDNRB, SOX10, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, ALX4 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
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
100 %
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
100 %
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
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
3 %
Genes
100 %
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
100 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel.

By Insight Medical Genetics in United States.

ALPL, FKBP10, IFITM5, COL2A1, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, AGPS, PPIB, FGFR3, FGFR2, PEX7, SLC26A2, FGFR1, COL11A1, TWIST1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Hypophosphatasia (childhood).

By Bioarray in Spain.

ALPL
Specificity
100 %
Genes
100 %
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
100 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

BRCA1, BRCA2, FMR1, HTT, HFE, TTR, UBE3A, APC, MUTYH, PTEN, TP53, ALPL, COL2A1, COL1A1, COL1A2, COL3A1, PRKCG, TGFB1, RET, AFG3L2 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
HYPOPHOSPHATASIA.

By Laboratorio de Genetica Clinica SL in Spain.

ALPL
Specificity
100 %
Genes
100 %
Hypophosphatasia, Sequencing ALPL Gene.

By Reference Laboratory Genetics in Spain.

ALPL
Specificity
100 %
Genes
100 %
Hypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, CYP27B1, PHEX, FGF23, ENPP1, SLC34A3, DMP1
Specificity
15 %
Genes
100 %
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
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
100 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
100 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %

Alternate names

Hypophosphatasia, Childhood Is also known as ;childhood-onset rathburn disease; childhood-onset phosphoethanolaminuria.



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