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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Genetics Laboratories
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Medical Genetics Test Details

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The American Medical Association (AMA) Current Procedural Terminology (CPT) codes and Healthcare Common Procedure Coding System (HCPCS) codes listed, are provided for informational purposes only. The codes reflect our interpretation of CPT/HCPCS coding requirements based upon AMA guidelines published annually. CPT/HCPCS codes are provided only as guidance to assist clients with billing. Baylor Genetics strongly recommends that clients confirm CPT/HCPCS codes with their Medicare Administrative Contractor (MAC) or other payer being billed, as requirements may differ. CPT coding is the sole responsibility of the billing party. Baylor Genetics assumes no responsibility for billing errors due to reliance on the CPT codes listed. Please direct any questions regarding CPT coding to the payer being billed.


Comprehensive mtDNA Analysis by Massively Parallel Sequencing (MitoNGSSM)
Test Information: Confirmation of Clinical Diagnosis. Evaluation of the entire mitochondrial genome for point mutations and deletions.
Test Details
Test Code: 2055
Special Notes: Unlike traditional direct sequence analysis, massively parallel sequencing provides thousands of reads for each nucleotide position of the entire 16,569 bp mitochondrial genome. The high-throughput sequence data generated by massively parallel sequencing enables a more accurate quantification of low-level mtDNA heteroplasmy sequence changes and detection of deletions with breakpoints.

The detection threshold of massively parallel sequencing analysis for heteroplasmic mitochondrial DNA point mutations is approximately 1.5% for the Illumina HiSeq 2000 platform. If targeted sequencing analysis is required for matrilineal family members, please order test code #3056 (targeted Sanger sequence, no heteroplasmy quantification), or test code #2056 (targeted massively parallel sequencing with heteroplasmy quantification).
The following subsets of MitoNGS can be ordered separately:

- Advanced mtDNA Point Mutations and Deletions by Massively Parallel Sequencing (BCM-MitomeNGSSM) (#2010)
- Mitochondrial Nonsyndromic Hearing Loss and Deafness Mutation Panel (#3030)

Gene              Product
MT-ATP8    ATP synthase, Fo subunit 8 (complex V)
MT-ATP6    ATP synthase, Fo subunit 6 (complex V)
MT-CO1    Cytochrome c oxidase, subunit 1 (complex IV)
MT-CO2    Cytochrome c oxidase, subunit 2 (complex IV)
MT-CO3    Cytochrome c oxidase, subunit 3 (complex IV)
MT-CYB    Cytochrome b (complex III)
MT-ND1    NADH dehydrogenase, subunit 1 (complex I)
MT-ND2    NADH dehydrogenase, subunit 2 (complex I)
MT-ND3    NADH dehydrogenase, subunit 3 (complex I)
MT-ND4L  NADH dehydrogenase, subunit 4L (complex I)
MT-ND4    NADH dehydrogenase, subunit 4 (complex I)
MT-ND5    NADH dehydrogenase, subunit 5 (complex I)
MT-ND6    NADH dehydrogenase, subunit 6 (complex I)
MT-TA      tRNA-Alanine (Ala or A)
MT-TR      tRNA-Arginine (Arg or R)
MT-TN      tRNA-Asparagine (Asn or N)
MT-TD      tRNA-Aspartic acid (Asp or D)
MT-TC      tRNA-Cysteine (Cys or C)
MT-TE      tRNA-Glutamic acid (Glu or E)
MT-TQ      tRNA-Glutamine (Gln or Q)
MT-TG      tRNA-Glycine (Gly or G)
MT-TH      tRNA-Histidine (His or H)
MT-TI       tRNA-Isoleucine (Ile or I)
MT-TL1     tRNA-Leucine (Leu-UUR or L)
MT-TL2     tRNA-Leucine (Leu-CUN or L)
MT-TK      tRNA-Lysine (Lys or K)
MT-TM      tRNA-Methionine (Met or M)
MT-TF       tRNA-Phenylalanine (Phe or F)
MT-TP       tRNA-Proline (Pro or P)
MT-TS1     tRNA-Serine (Ser-UCN or S)
MT-TS2     tRNA-Serine (Ser-AGY or S)
MT-TT       tRNA-Threonine (Thr or T)
MT-TW      tRNA-Tryptophan (Trp or W)
MT-TY       tRNA-Tyrosine (Tyr or Y)
MT-TV       tRNA-Valine (Val or V)
MT-RNR1   Small subunit : SSU (12S)
MT-RNR2   Large subunit : LSU (16S)
Technical Information
Methodology: Next Generation (NextGen) Sequence Analysis using an Illumina HiSeq 2000 platform
Sample & Shipping Information
Test Requisition: Mitochondrial
Specimen Type: **Fresh Frozen Tissue
Requirements: 50mg for Tissue
Shipping Conditions: Fresh Tissue should be flash frozen in liquid nitrogen at collection with no media added, stored at -80C, and shipped by overnight courier on 3-5 lbs of dry ice.

Specimen Type: **Liver
Requirements: 50mg for Liver
Shipping Conditions: Liver should be flash frozen in liquid nitrogen at collection with no media added, stored at -80C, and shipped by overnight courier on 3-5 lbs of dry ice.

Specimen Type: **Skeletal Muscle
Requirements: 50mg for Muscle
Shipping Conditions: Skeletal Muscle should be flash frozen in liquid nitrogen at collection with no media added, stored at -80C, and shipped by overnight courier on 3-5 lbs of dry ice.

Specimen Type: *Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Specimen Type: *Purified DNA
Requirements: Send at least 5ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: *14-28 days; **28-56 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81460x1, 81465x1


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