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Results: 21 to 34 of 34

Tests names and labsConditionsGenes, analytes, and microbesMethods

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
128
  • C Sequence analysis of the entire coding region

Neurodegeneration with Brain Iron Accumulation (NBIA)

MGZ Medical Genetics Center
Germany
112
  • C Sequence analysis of the entire coding region

Pantothenate Kinase-Associated Neurodegeneration (PKAN, NBIA1, PANK2)

MVZ Dr. Eberhard & Partner Dortmund
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Aceruloplasminemia (CP)

MVZ Dr. Eberhard & Partner Dortmund
Germany
31
  • C Sequence analysis of the entire coding region

Neuroferritinopathy, FTL, Sequencing

NBIA Testing Center Oregon Health & Science University
United States
21
  • C Sequence analysis of the entire coding region

Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Sequencing and Deletion/Duplication

NBIA Testing Center Oregon Health & Science University
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Deletion/Duplication

NBIA Testing Center Oregon Health & Science University
United States
51
  • D Deletion/duplication analysis

Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Deletion/Duplication

NBIA Testing Center Oregon Health & Science University
United States
21
  • D Deletion/duplication analysis

Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Sequencing and Deletion/Duplication

NBIA Testing Center Oregon Health & Science University
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Fatty Acid Hydroxylase-Associated Neurdegeneration (FAHN), FA2H, Sequencing

NBIA Testing Center Oregon Health & Science University
United States
21
  • C Sequence analysis of the entire coding region

Beta-Propeller Protein-Associated Neurodegeneration (BPAN), WDR45, Sequencing

NBIA Testing Center Oregon Health & Science University
United States
31
  • C Sequence analysis of the entire coding region

Neuroferritinopathy, FLT, Sequencing

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
21
  • C Sequence analysis of the entire coding region

Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Deletion/Duplication

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
41
  • D Deletion/duplication analysis

Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Deletion/Duplication

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
11
  • D Deletion/duplication analysis

Results: 21 to 34 of 34

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.