ALPL gene related symptoms and diseases

All the information presented here about the ALPL gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ALPL gene

Symptoms // Phenotype % Cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases
Low alkaline phosphatase Uncommon - Between 30% and 50% cases
Bowing of the legs Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hypoplasia of dental enamel Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ALPL gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hypercalcemia
  • Rickets
  • Premature loss of teeth
  • Phosphoethanolaminuria
  • Elevated urine pyrophosphate
  • Skin dimple over apex of long bone angulation
  • Rachitic rosary
  • Premature loss of primary teeth

And 55 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ALPL gene

Here you will find a list of rare diseases related to the ALPL. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CHILDHOOD-ONSET HYPOPHOSPHATASIA


Alternate names

CHILDHOOD-ONSET HYPOPHOSPHATASIA Is also known as childhood-onset phosphoethanolaminuria, childhood-onset rathburn disease

Description

Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia (see this term) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.

Most common symptoms of CHILDHOOD-ONSET HYPOPHOSPHATASIA

  • Seizures
  • Short stature
  • Pain
  • Motor delay
  • Frontal bossing


More info about CHILDHOOD-ONSET HYPOPHOSPHATASIA

SOURCES: OMIM MESH ORPHANET

INFANTILE HYPOPHOSPHATASIA


Alternate names

INFANTILE HYPOPHOSPHATASIA Is also known as infantile rathburn disease, infantile phosphoethanolaminuria

Description

Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia (see this term) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.


More info about INFANTILE HYPOPHOSPHATASIA

SOURCES: ORPHANET

PERINATAL LETHAL HYPOPHOSPHATASIA


Alternate names

PERINATAL LETHAL HYPOPHOSPHATASIA Is also known as hops, perinatal lethal rathburn disease, phosphoethanolaminuria, perinatal lethal phosphoethanolaminuria

Description

Perinatal lethal hypophosphatasia (PL-HPP) is a very rare form of hypophosphatasia (see this term) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.

Most common symptoms of PERINATAL LETHAL HYPOPHOSPHATASIA

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Muscular hypotonia


More info about PERINATAL LETHAL HYPOPHOSPHATASIA

SOURCES: ORPHANET OMIM

ODONTOHYPOPHOSPHATASIA


Description

Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia (see this term) characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.


More info about ODONTOHYPOPHOSPHATASIA

SOURCES: ORPHANET

ADULT HYPOPHOSPHATASIA


Alternate names

ADULT HYPOPHOSPHATASIA Is also known as hypophosphatasia, mild, adult phosphoethanolaminuria, adult rathburn disease

Description

Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia (see this term) characterized by osteomalacia,chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies.

Most common symptoms of ADULT HYPOPHOSPHATASIA

  • Abnormality of the skeletal system
  • Osteoporosis
  • Arthralgia
  • Carious teeth
  • Abnormality of the foot


More info about ADULT HYPOPHOSPHATASIA

SOURCES: ORPHANET OMIM

PRENATAL BENIGN HYPOPHOSPHATASIA


Alternate names

PRENATAL BENIGN HYPOPHOSPHATASIA Is also known as prenatal benign rathburn disease, prenatal benign phosphoethanolaminuria

Description

Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia (see this term) characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease.


More info about PRENATAL BENIGN HYPOPHOSPHATASIA

SOURCES: ORPHANET


Potential gene panels for ALPL gene

ALPL Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ALPL gene.

More info about this panel

ALPL Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ALPL gene.

More info about this panel

ALPL Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ALPL gene.

More info about this panel

ALPL Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ALPL gene.

More info about this panel

Low Bone Mass Panel (MitomeNGS) Panel

United States.

By Baylor Miraca Genetics Laboratories Low Bone Mass Panel (MitomeNGS) that also includes the following genes: SLC34A1 SLC9A3R1 TNFRSF11A TNFRSF11B IFITM5 SP7 FKBP10 P3H1 SLC39A13 COL1A2

More info about this panel

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

More info about this panel

Osteogenesis Imperfecta and Genetic Bone Disorders Panel Panel

United States.

By Collagen Diagnostic Laboratory University of Washington Osteogenesis Imperfecta and Genetic Bone Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC TNFRSF11B WNT1 MBTPS2 SERPINH1 XYLT2 NBAS IFITM5

More info about this panel

Hypophosphatasia Panel

United States.

By Collagen Diagnostic Laboratory University of Washington

This panel specifically test the ALPL gene.

More info about this panel

Craniosynostosis Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Craniosynostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 ASXL1 WDR19 WDR35 IFT43

More info about this panel

ALPL Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the ALPL gene.

More info about this panel

Hypophosphatemic Rickets Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypophosphatemic Rickets Deletion/Duplication Panel that also includes the following genes: VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX

More info about this panel

Hypophosphatemic Rickets Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypophosphatemic Rickets Sequencing Panel that also includes the following genes: VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX

More info about this panel

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2

More info about this panel

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2

More info about this panel

Osteogenesis Imperfecta & Low Bone Mass Disorders Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Osteogenesis Imperfecta & Low Bone Mass Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 CASR SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel

Hypohosphatasia Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the ALPL gene.

More info about this panel

ALPL. Sequencing of the exons 6, 9, 10 and 11 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ALPL gene.

More info about this panel

ALPL. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ALPL gene.

More info about this panel

COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SLC26A2 SOX9 COL1A2 CRTAP FGFR3 ALPL

More info about this panel

Craniofacial Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniofacial Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniofacial Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Skeletal dysplasia (NGS panel for 31 genes) Panel

Portugal.

By CGC Genetics Skeletal dysplasia (NGS panel for 31 genes) that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 P3H1 SBDS SLC35D1 COL10A1

More info about this panel

Craniosynostosis (NGS panel for 30 genes) Panel

Portugal.

By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1

More info about this panel

Hypophosphatasia, perinatal lethal (sequence analysis of ALPL gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALPL gene.

More info about this panel

Rickets (NGS panel for 10 genes) Panel

Portugal.

By CGC Genetics Rickets (NGS panel for 10 genes) that also includes the following genes: VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX

More info about this panel

Hypophosphatasia (sequence analysis of ALPL gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALPL gene.

More info about this panel

Hypophosphatasia via ALPL Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ALPL gene.

More info about this panel

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS

More info about this panel

Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS

More info about this panel

Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SLC34A3 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Abnormal mineralization disorders Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Abnormal mineralization disorders Comprehensive Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1

More info about this panel

Abnormal mineralization disorders Deletion/ Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Abnormal mineralization disorders Deletion/ Duplication Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1

More info about this panel

Abnormal mineralization disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Abnormal mineralization disorders NGS panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1

More info about this panel

Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel

Skeletal dysplasia core & extended Deletion / Duplication panel Panel

United States.

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

More info about this panel

Osteogenesis imperfecta Comprehensive panel - Dominant Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Dominant that also includes the following genes: IFITM5 COL1A2 ANO5 ALPL P4HB PLS3

More info about this panel

Osteogenesis imperfecta Deletion / Duplication panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1

More info about this panel

Skeletal dysplasia core & extended Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia core & extended Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1

More info about this panel

Skeletal dysplasia core Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia core Comprehensive panel that also includes the following genes: SLC26A2 SOX9 TRIP11 COL1A2 FGFR3 ALPL INPPL1 NKX3-2

More info about this panel

Skeletal dysplasia core NGS panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia core NGS panel that also includes the following genes: SLC26A2 SOX9 TRIP11 COL1A2 FGFR3 ALPL INPPL1 NKX3-2

More info about this panel

Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel

Osteogenesis imperfecta NGS panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1

More info about this panel

Skeletal dysplasia core & extended NGS panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia core & extended NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1

More info about this panel

Osteogenesis imperfecta Deletion / Duplication panel - Dominant Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Dominant that also includes the following genes: IFITM5 COL1A2 ANO5 ALPL P4HB PLS3

More info about this panel

Osteogenesis imperfecta NGS panel - Dominant Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Dominant that also includes the following genes: IFITM5 COL1A2 ANO5 ALPL P4HB PLS3

More info about this panel

Osteogenesis imperfecta Comprehensive panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1

More info about this panel

Skeletal dysplasia core Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia core Deletion / Duplication panel that also includes the following genes: SLC26A2 SOX9 TRIP11 COL1A2 FGFR3 ALPL INPPL1 NKX3-2

More info about this panel

Osteogenesis imperfecta NGS panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel

Hypophosphatasia, infantile, childhood & adult types Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ALPL gene.

More info about this panel

Hypophosphatasia, infantile, childhood & adult types Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ALPL gene.

More info about this panel

Hypophosphatasia, infantile, childhood & adult types Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the ALPL gene.

More info about this panel

Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel

United States.

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

More info about this panel

Skeletal dysplasia and skeletal ciliopathy NGS panel Panel

United States.

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

More info about this panel

Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel

United States.

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

More info about this panel

Hypophosphatasia Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the ALPL gene.

More info about this panel

Osteogenesis imperfecta and osteoporosis - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Osteogenesis imperfecta and osteoporosis - different panels that also includes the following genes: BMP1 SEC24D SPARC WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1

More info about this panel

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel

Alkaline phosphatase, liver (ALPL) deficiency. Panel

Netherlands.

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

This panel specifically test the ALPL gene.

More info about this panel

Hypophosphatasia, adult Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ALPL gene.

More info about this panel

Hypophosphatasia, childhood Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ALPL gene.

More info about this panel

Hypophosphatasia, infantile Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ALPL gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Potentially lethal skeletal disorders Panel Panel

Germany.

By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1

More info about this panel

Skeletal dysplasia with abnormal mineralization Panel Panel

Germany.

By CeGaT GmbH Skeletal dysplasia with abnormal mineralization Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1

More info about this panel

Single gene testing ALPL Panel

Germany.

By CeGaT GmbH

This panel specifically test the ALPL gene.

More info about this panel

Skeletal Dysplasia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Skeletal Dysplasia that also includes the following genes: ROR2 SLC26A2 SOX9 TRIP11 WNT5A ESCO2 FGFR2 FGFR3 ALPL

More info about this panel

Hypophosphatasia Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the ALPL gene.

More info about this panel

ALPL Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the ALPL gene.

More info about this panel

Family Prep Screen Panel

United States.

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5

More info about this panel

Hypophosphatasia: ALPL gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ALPL gene.

More info about this panel

Skeletal dysplasias Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Skeletal dysplasias that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1

More info about this panel

NGS panel - Osteogenesis Imperfecta and related disorders Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Osteogenesis Imperfecta and related disorders that also includes the following genes: BMP1 WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1 COL1A2 CRTAP

More info about this panel

Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel that also includes the following genes: TNFRSF11A TYROBP ZMPSTE24 CASR SERPINH1 ANKH IFITM5 SP7 TREM2 FKBP10

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel

Hypophosphatasia Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the ALPL gene.

More info about this panel

Inheritest NGS, Comprehensive Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

ALPL Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ALPL gene.

More info about this panel

Hypophosphatemic Rickets Panel Panel

Finland.

By Blueprint Genetics Hypophosphatemic Rickets Panel that also includes the following genes: SLC34A1 VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FAH FGF23

More info about this panel

Osteogenesis Imperfecta Panel Panel

Finland.

By Blueprint Genetics Osteogenesis Imperfecta Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel

Facial Dysostosis and Related Disorders Panel Panel

Finland.

By Blueprint Genetics Facial Dysostosis and Related Disorders Panel that also includes the following genes: SF3B4 SMC1A TCOF1 TWIST1 UBE2A HDAC8 SRCAP EVC2 POLR1C POLR1D

More info about this panel

Craniosynostosis Panel Panel

Finland.

By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23

More info about this panel

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

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Skeletal Dysplasia with Abnormal Mineralization Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasia with Abnormal Mineralization Panel that also includes the following genes: SOX9 TNFRSF11A TNFRSF11B VDR SNX10 CASR ANKH FKBP10 P3H1 CLCN5

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Nephrolithiasis Panel Panel

Finland.

By Blueprint Genetics Nephrolithiasis Panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2

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Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

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Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel Panel

United States.

By Insight Medical Genetics Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel that also includes the following genes: ROR2 BMP1 SLC26A2 SOX9 TWIST1 WNT1 SERPINH1 IFITM5 SP7 FKBP10

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Hypophosphatasia (childhood) Panel

Spain.

By Bioarray

This panel specifically test the ALPL gene.

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Exome Panel

Brazil.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9

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HYPOPHOSPHATASIA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ALPL gene.

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CRANIOSYNOSTOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS NGS PANEL that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1

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SKELETAL DYSPLASIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SKELETAL DYSPLASIA NGS PANEL that also includes the following genes: SLC26A2 SOX9 TRIP11 TRPV4 EVC2 SLC35D1 COL10A1 COL11A1 COL11A2 COL1A2

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Hypophosphatasia, Sequencing ALPL Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ALPL gene.

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Hypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Hypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SLC34A3 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX

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Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Panel

Spain.

By Reference Laboratory Genetics Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1

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Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel

Spain.

By Reference Laboratory Genetics Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes that also includes the following genes: SLC34A1 SLC9A3R1 TJP2 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 FAM20C

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planTrue Extended Panel

United States.

By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1

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Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

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