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Results: 41 to 58 of 58

Tests names and labsConditionsGenes, analytes, and microbesMethods

HSP, Comprehensive Evaluation

Athena Diagnostics
United States
4024
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HSP, Supplemental Dominant Evaluation

Athena Diagnostics
United States
126
  • C Sequence analysis of the entire coding region

Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel

CeGaT GmbH
Germany
2217
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegia

Asper Biogene Asper Biogene LLC
Estonia
3938
  • C Sequence analysis of the entire coding region

Single gene testing BSCL2

CeGaT GmbH
Germany
41
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy (SMA) Panel

CeGaT GmbH
Germany
4427
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel

CeGaT GmbH
Germany
147143
  • C Sequence analysis of the entire coding region

BSCL2 Single Gene

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Charcot Marie Tooth Disease Extended NGS Panel

Fulgent Genetics
United States
17259
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Hereditary Motor Neuropathy NGS Panel

Fulgent Genetics
United States
3815
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Generalized Lipodystrophy Type 1/2 NGS Panel

Fulgent Genetics
United States
52
  • 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

Spastic Paraplegia NGS Panel

Fulgent Genetics
United States
5327
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular NGS Panel

Fulgent Genetics
United States
259112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lipodystrophy NGS Panel

Fulgent Genetics
United States
2710
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Neuropathies NGS Panel

Fulgent Genetics
United States
9138
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Berardinelli-Seip Congenital Lipodystrophy Type 2

MGZ Medical Genetics Center
Germany
21
  • C Sequence analysis of the entire coding region

BSCL2-Related Neurologic Disorders/Seipinopathy

MGZ Medical Genetics Center
Germany
31
  • C Sequence analysis of the entire coding region

Results: 41 to 58 of 58

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.