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.

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Dual Genome Panel by Massively Parallel Sequencing (BCM-MitomeNGS^SM)
Test Information:	Confirmation of Clinical Diagnosis, Carrier testing and Differential Diagnosis
Test Details
Test Code:	2085
Special Notes:	163 nuclear and 37 mitochondrial genes involved in Mitochondrial disorders are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation sequence technology. These genes are tabulated below and sequencing of subsets of the MitomeNGS panel may be ordered. All exons of these 200 genes are examined by NGS. Exonic variants and intronic variants within 20bp of the exon/intron boundary will be reported. This massively parallel sequence analysis (BCM-MitomeNGS^SM) will not detect genomic structural rearrangements (eg. deletions, duplications, and inversions), large insertion mutations (e.g. ALU mediated insertion), and mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing. Sequence analysis for each of the 163 nuclear genes responsible for Mitochondrial disorder by Massively Parallel Sequencing (BCM-MitomeNGS^SM) can also be ordered separately: AARS2, ACAD9, ACADM, ACADVL, ACAT, ADCK3, AGL, AIFM1, APTX, ARG1, ATP5A1, ATP5E, ATPAF2, AUH, BCS1L, BTD, C12orf65, COQ2, COQ9, COX10, COX15, COX4I2, COX6A1, COX6B1, CPS1, CPT1A, CPT2, DARS2, DGUOK, DLAT, DLD, DNAJC19, EARS2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FH, FOXRED1, G6PC, GAA, GBE1, GFM1, GFM2, GYS1, GYS2, HADHA, HADHB, HARS2, HLCS, ISCU, IVD, KARS, LARS2, LMBRD1, LPIN1, LRPPRC, MARS2, MCCC1, MCCC2, MFN2, MGME1, MMAA, MMAB, MMACHC, MMADHC, MPI, MPV17, MRPL3, MRPL44, MRPS16, MTFMT, MTO1, MTRR, MUT, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA13, NDUFA2, NDUFA8, NDUFAF1, NDUFAF2, NDUFAF4, NDUFAF5 (alternate name C20orf7), NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, OPA3, OTC, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PMM2, POLG, POLG2, PUS1, PYGL, PYGM, RARS2, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHD, SDHAF1, SDHB, SDHC, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A3, SLC25A4, SLC37A4, SUCLA2, SUCLG1, SURF1, TACO1, TAZ, TCN2, TIMM8A, TK2, TMEM70, TRIT1, TRMU, TSFM, TUFM, TUSC3, TWINK (alternate name C10orf2), TYMP, UQCRB, UQCRC2, UQCRQ, and YARS2.
Technical Information
Methodology:	Targeted Capture followed by Massively Parallel Sequencing
Gene Name:	Please see "Special Notes" section for a list of genes.

Sample & Shipping Information
Test Requisition:	Mitochondrial
Specimen Type:	**Cultured Skin Fibroblasts
Requirements:	Send 3 T25 flasks at 60-80% confluence. TAT may be extended by up to 3 wks. Flasks should be less than 3 wks of culture age.
Shipping Conditions:	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Specimen Type:	**Skeletal Muscle
Requirements:	100mg 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).
Shipping Conditions:	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 72 hrs.
Specimen Type:	*Purified DNA
Requirements:	Send at least 10ug 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.

Billing Information
Turn Around Time:	28 days, *28-56 days
List Price:	*For Insurance or Institutional Prices, please call.
CPT Codes:	81440x1, 81460x1, 81465x1

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