Personalized Genomic Medicine

Neurogenetic Mitochondrial Testing

Neurogenetic Mitochondrial Testing in the Laboratory for Personalized Genomic Testing is available.  Click on the links below for a description of tests currently offered.  For more information regarding Neurogenetic Mitochondrial testing, email pgminquiry@cumc.columbia.edu.

Mitochondrial Next Generation Sequencing
Mitochondrial Disease Testing:
Molecular Tests
Biochemical Tests
Glycogenosis Disease Testing:
Glycolytic Deficiencies
DNA Testing for Glycogenosis
Neurodegenerative Disorder Testing

Mitochondrial Tests - Next Generation Sequencing

mtDNA Whole Genome Sequencing

Purpose: To detect Mitochondrial DNA mutations.
CPT Codes: 81460
Methodology: Next Generation Sequencing
Turnaround Time: 21 days
Specimen: Muscle, Blood, or DNA 
Genes Tested: Gene List
Forms: For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.

Mitochondrial DNA Point Mutation(s): MELAS, MERRF, NARP, LHON

Purpose: To detect most commonly observed Mitochondrial point mutations.
CPT Codes: 81479
Methodology: Next Generation sequencing of mitochondrial genome.
Turnaround Time: 21 days
Specimen: Muscle, Blood, or DNA 
Forms: For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.


Mitochondrial Disease Testing


Molecular Tests:

Southern Blot for Mitochondrial DNA Rearrangements

Purpose: To detect Mitochondrial DNA deletions and/or duplications.
CPT Codes:  
Methodology: Southern Blot Assay 
Turnaround Time: 21 days
Specimen: Muscle or Blood
Forms: For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.

Mitochondrial DNA Depletion

Purpose: To detect Mitochondrial DNA depletion syndrome.
CPT Codes: 81465
Methodology: Real-Time PCR
Turnaround Time: 14 days
Specimen: Muscle
Forms: For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.


Biochemical Tests:

Mitochondrial Respiratory Chain Enzyme Analysis

Purpose: To detect Mitochondrial respiratory chain enzyme deficiency.
CPT Codes:  
Methodology: Spectrophotometric Assay
Turnaround Time: 14 days
Specimen: Muscle
Forms: For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.

Coenzyme Q10 Level

Purpose: To detect Coenzyme Q10 Deficiency.
CPT Codes:  
Methodology: HPLC with electrochemical detection system. 
Turnaround Time: 14 days
Specimen: Blood and Muscle
Forms: For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.

MNGIE – Thymidine Phosphorylase Activity

Purpose: To detect Thymidine Phosphorylase deficiency.
CPT Codes:  
Methodology: Spectrophotometric Assay
Turnaround Time: 14 days
Specimen: Blood only
Forms: For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.


Glycogenosis Disease Testing


Glycolytic Deficiencies:

GLY Panel of Six

Purpose: To detect abnormalities of glycogen metabolism causing exercise intolerance and myalgia.
  • GSD V: McArdle’s Disease, Myophosphorylase (PPL) Activity
  • GSD VII: Tarui’s Disease, Phosphofructokinase (PFK) Activity
  • GSD VIII: Phosphorylase b Kinase (PHK) Activity
  • GSD IX: Phosphoglycerate Kinase (PGK) Activity
  • GSD X: Phosphoglycerate Mutase (PGAM) Activity
  • GSD XI: Lactate Dehydrogenase Activity
  • Test Information GSD Test Information
    CPT Codes: 81207, 84311 (6), 82657 (3)
    Methodology: Spectrophotometric Assay
    Turnaround Time: 21 days
    Specimen: Muscle  
    Forms: For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.

    GSD Panel of Three

    Purpose: To detect abnormalities of glycogen metabolism causing weakness.
  • GSD II: Acid Maltase Activity (Pompe’s Disease)
  • GSD III: Glycogen Debrancher Activity
  • GSD IV: Glycogen Branching Enzyme Activity  (Andersen’s Disease)
  • Test Information GSD Test Information
    CPT Codes: 84311 (3), 82657 (3)
    Methodology: Spectrophotometric Assay
    Turnaround Time: 21 days
    Specimen: Muscle
    Forms: For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.


    DNA Testing for Glycogenosis:

    Phosphofructokinase (PFK) Exon 5 Deletion

    Purpose: To detect Phosphofructokinase enzyme deficiencies.
    CPT Codes:  
    Methodology: Restriction Fragment Length Polymorphism (RFLP)
    Turnaround Time: 21 days
    Samples tested: Blood or Muscle
    Forms: For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.

    Myophosphorylase Sequencing – McArdle's Disease

    Purpose: To detect Myophosphorylase deficiencies.
    CPT Codes:  
    Methodology: Restriction Fragment Length Polymorphism (RFLP)
    Turnaround Time: 21 days
    Specimen: Muscle
    Forms: For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.


    Neurodegenerative Disorder Testing

    Huntington Disease (HTT)

    Purpose: To confirm diagnosis of Huntington Disease.
    CPT Codes:  
    Methodology: Capillary Electrophoresis
    Turnaround Time: 14 days
    Specimen: Blood
    Forms: For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.

    C9orf72 GGGGCC Repeat Expansion

    Purpose: To detect expansion of Hexonucleotide repeat causing Amyotrophic Lateral Sclerosis (ALS) and FTP.
    CPT Codes:  
    Methodology: Capillary Electrophoresis
    Turnaround Time: 14 days
    Specimen: Blood
    Forms: For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.

    Early Onset Torsion Dystonia (DYT1)

    Purpose: To detect mutation in DYT1 gene causing Early Onset Dystonia.
    CPT Codes:  
    Methodology: Sanger Gene Sequencing
    Turnaround Time: 14 days
    Specimen: Blood
    Forms: For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.

    Fragile X (FMR1) CGG Repeat Expansion

    Purpose: To screen for FMR1 gene mutation (Fragile X). 
    CPT Codes:  
    Methodology: PCR and Southern Blot
    Turnaround Time: 14 days
    Specimen: Blood
    Forms:

    Informed consent form

    For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.

    Spinal Muscular Atrophy – SMN Copy Number

    Purpose: To screen for SMN1 deletion causing Spinal Muscular Atrophy.
    CPT Codes:  
    Methodology: Gene copy number by Real-Time PCR
    Turnaround Time: Prenatal Samples: 3 Days
    Confirmation: 14 Days
    Specimen: Blood
    Forms:

    Informed consent form

    For all Neurogenetics and Mitochondrial Testing, the required Test Requisition and Consent Forms can be requested by email at PGMInquiry@cumc.columbia.edu or contact the Columbia University Laboratory of Personalized Genomic Medicine at (212)305-9706.

     
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