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Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Gene: NALCN
Results:
38 genetic tests from 18 labs with tests matching your search, 3 labs matching in other ways
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Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoNeuro Panel

CENTOGENE GmbH and LLC - Guiding Precision Medicine
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Labcorp Genetics (formerly Invitae), LabCorp
United States
971680
  • D Deletion/duplication analysis

Invitae Epilepsy Panel

Labcorp Genetics (formerly Invitae), LabCorp
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Neurodevelopmental Disorders Panel

Labcorp Genetics (formerly Invitae), LabCorp
United States
404241
  • D Deletion/duplication analysis

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebral Palsy Spectrum Disorders Panel

Labcorp Genetics (formerly Invitae), LabCorp
United States
638419
  • D Deletion/duplication analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
16551199
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
United States
234240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419, Autosomal recessive; IHPRF1 (Hypotonia-speech impairment-severe cognitive delay syndrome) (NALCN gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419, Autosomal recessive; IHPRF1 (Hypotonia-speech impairment-severe cognitive delay syndrome) (NALCN gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics, part of Exact Sciences
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801, Autosomal recessive; IHPRF2 (Hypotonia-speech impairment-severe cognitive delay syndrome) (UNC80 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801, Autosomal recessive; IHPRF2 (Hypotonia-speech impairment-severe cognitive delay syndrome) (UNC80 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
United States
143135
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypotonia, infantile, with psychomotor retardation and characteristic facies: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
33
  • C Sequence analysis of the entire coding region

Infantile hypotonia with psychomotor retardation and characteristic facies 1 (sequence analysis of NALCN gene)

CGC Genetics, Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Epilepsy/Seizure NGS Panel

Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
United States
158165
  • C Sequence analysis of the entire coding region

Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900, Autosomal recessive; IHPRF3 (TBCK gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region
38 tests from 18 labs
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View the list of labs matching your search query.
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❮Page 1 of 2❯
CentoNeuro Panel by CENTOGENE GmbH and LLC - Guiding Precision Medicine
1886 conditions, 1858 genes
Clinical Exome by Fulgent Genetics
5128 conditions, 4672 genes
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel by Labcorp Genetics (formerly Invitae), LabCorp
971 conditions, 680 genes
Invitae Epilepsy Panel by Labcorp Genetics (formerly Invitae), LabCorp
466 conditions, 297 genes
Invitae Neurodevelopmental Disorders Panel by Labcorp Genetics (formerly Invitae), LabCorp
404 conditions, 241 genes
Intellectual Disability NGS Panel by Fulgent Genetics
1058 conditions, 554 genes
Invitae Cerebral Palsy Spectrum Disorders Panel by Labcorp Genetics (formerly Invitae), LabCorp
638 conditions, 419 genes
MVL Vision Panel by Molecular Vision Laboratory
1655 conditions, 1199 genes
Comprehensive Epilepsy by MNG Laboratories (Medical Neurogenetics, LLC.)
414 conditions, 800 genes
Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
234 conditions, 240 genes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419, Autosomal recessive; IHPRF1 (Hypotonia-speech impairment-severe cognitive delay syndrome) (NALCN gene) (Sequence Analysis-All Coding Exons) (Postnatal) by Intergen Genetics and Rare Diseases Diagnosis Center
1 condition, 1 gene
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419, Autosomal recessive; IHPRF1 (Hypotonia-speech impairment-severe cognitive delay syndrome) (NALCN gene) (Sequence Analysis-All Coding Exons) (Prenatal) by Intergen Genetics and Rare Diseases Diagnosis Center
1 condition, 1 gene
Autism Spectrum Disorders (ASD) Panel by PreventionGenetics, part of Exact Sciences
224 conditions, 170 genes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801, Autosomal recessive; IHPRF2 (Hypotonia-speech impairment-severe cognitive delay syndrome) (UNC80 gene) (Sequence Analysis-All Coding Exons) (Postnatal) by Intergen Genetics and Rare Diseases Diagnosis Center
1 condition, 1 gene
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801, Autosomal recessive; IHPRF2 (Hypotonia-speech impairment-severe cognitive delay syndrome) (UNC80 gene) (Sequence Analysis-All Coding Exons) (Prenatal) by Intergen Genetics and Rare Diseases Diagnosis Center
1 condition, 1 gene
Epilepsy Panel by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
143 conditions, 135 genes
Hypotonia, infantile, with psychomotor retardation and characteristic facies: Full gene sequencing panel by CEN4GEN Institute for Genomics and Molecular Diagnostics
3 conditions, 3 genes
Infantile hypotonia with psychomotor retardation and characteristic facies 1 (sequence analysis of NALCN gene) by CGC Genetics, Unilabs
1 condition, 1 gene
Epilepsy/Seizure NGS Panel by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
158 conditions, 165 genes
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900, Autosomal recessive; IHPRF3 (TBCK gene) (Sequence Analysis-All Coding Exons) (Postnatal) by Intergen Genetics and Rare Diseases Diagnosis Center
1 condition, 1 gene

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.