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Mitochondrial DNA (Mtdna) Test Requisition BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 MITOCHONDRIAL DNA (mtDNA) TEST REQUISITION PATIENT INFORMATION SAMPLE INFORMATION NAME: DATE OF COLLECTION: / / LAST NAME FIRST NAME MI MM DD YY HOSPITAL#: ACCESSION#: DATE OF BIRTH: / / GENDER (Please select one): FEMALE MALE MM DD YY SAMPLE TYPE (Please select one): ETHNIC BACKGROUND (Select all that apply): UNKNOWN BLOOD AFRICAN AMERICAN SKELETAL MUSCLE ASIAN DNA (Specify Source): ASHKENAZIC JEWISH EUROPEAN CAUCASIAN -OR- HISPANIC PLACE PATIENT STICKER HERE OTHER (Specify): NATIVE AMERICAN INDIAN OTHER JEWISH OTHER (Please specify): REPORTING INFORMATION ADDITIONAL PROFESSIONAL REPORT RECIPIENTS PHYSICIAN: NAME: INSTITUTION: PHONE: FAX: PHONE: FAX: NAME: EMAIL (INTERNATIONAL CLIENT REQUIREMENT): PHONE: FAX: INDICATION FOR STUDY SYMPTOMATIC (Summarize below.): *FAMILIAL MUTATION/VARIANT ANALYSIS: Complete all fields below and attach the proband's report. GENE NAME: ASYMPTOMATIC/POSITIVE FAMILY HISTORY: (ATTACH FAMILY HISTORY) MUTATION/UNCLASSIFIED VARIANT: RELATIONSHIP TO PROBAND: THIS INDIVIDUAL IS CURRENTLY: SYMPTOMATIC ASYMPTOMATIC *If family mutation is known, complete the FAMILIAL MUTATION/ VARIANT ANALYSIS section. NAME OF PROBAND: ASYMPTOMATIC/POPULATION SCREENING RELATIONSHIP TO PROBAND: OTHER (Specify clinical findings below.): BMGL LAB#: A COPY OF ORIGINAL RESULTS ATTACHED IF PROBAND TESTING WAS PERFORMED AT ANOTHER LAB, CALL TO DISCUSS PRIOR TO SENDING SAMPLE. A POSITIVE CONTROL MAY BE REQUIRED IN SOME CASES. REQUIRED: NEW YORK STATE PHYSICIAN SIGNATURE OF CONSENT I certify that the patient specified above and/or their legal guardian has been informed of the benefits, risks, and limitations of the laboratory test(s) requested. I have answered this person's questions. I have obtained informed consent from the patient or their legal guardian for this testing. Physician's Printed Name: ___________________________________ Signature: __________________________________________ Date (MM/DD/YY): _________ DUAL GENOME PANEL BY MASSIVELY PARALLEL SEQUENCING -162 nuclear and 37 mitochondrial genes essential to Mitochondrial function are analyzed by Massively Parallel Sequencing. 2085 - This test is a combination of the following tests: 2055 - Comprehensive mtDNA Analysis by Massively Parallel Sequencing (MitoNGS) and 2086 - Mitome Nuclear Genes Panel DUAL GENOME LEIGH DISEASE PANEL BY MASSIVELY PARALLEL SEQUENCING - 90 nuclear and 37 mitochondrial genes essential to Mitochondrial function are analyzed by Massively Parallel Sequencing. 20600 - This test is a combination of the following tests: 2055 - Comprehensive mtDNA Analysis by Massively Parallel Sequencing (MitoNGS) and 20601 - Leigh Disease Panel Page 1 of 10 LAST UPDATED: 8/3/2015 BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 MITOCHONDRIAL DNA (mtDNA) TEST REQUISITION NAME: DATE OF BIRTH: / / GENDER (Please select one): FEMALE MALE LAST NAME FIRST NAME MI MM DD YY UNKNOWN COMPREHENSIVE mtDNA ANALYSIS BY MASSIVELY PARALLEL SEQUENCING (MitoNGS) - Sequence analysis of the entire mitochondrial genome with quantification of heteroplasmy levels for all nucleotide positions 2055 - Detection of deletions with breakpoints and heteroplasmy AVAILABLE MASSIVELY PARALLEL SEQUENCING (BCM-MitomeNGSSM) & MitoMet PANELS LISTED BY DISORDER 2086 Mitome Nuclear Genes 164 GENES For full list of genes, please see website AP3B1, BLOC1S3, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, OCA2, SLC45A2, TYR, 20100 Albinism Sequence Analysis 13 GENES TYRP1 ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9 (PTHB1), BBS10, BBS12, CCDC28B, CEP290, 20400 Bardet-Biedl Syndrome Sequence Analysis 18 GENES LZTFL1, MKKS, MKS1, TMEM67, TRIM32, TTC8, WDPCP (C2orf86) 2105 Cholestasis Sequence Analysis 7 GENES ABCB4, ABCB11, ATP8B1, AKR1D1, JAG1, SERPINA1, SLC25A13 2100 Coenzyme Q10 Deficiency Sequence Analysis 5 GENES ADCK3 (COQ8/CABC1), COQ2, COQ9, PDSS1, PDSS2 ABCD4, ACSF3, CBS, CD320, GIF, HCFC1, IVD, LMBRD1, MCEE, MMAA, MMAB, MMACHC, 2120 Cobalamin Metabolism Disorders Sequence Analysis 21 GENES MMADHC, MTHFR, MTR, MTRR, MUT, SUCLA2, SUCLG1, SUCLG2, TCN2 2625 COL1A1/2-Related Disorders Sequence Analysis 2 GENES COL1A1, COL1A2 5095 Congenital Disorders of Glycosylation Sequence Analysis 36 GENES For full list of genes, please see website 24500 Congenital & Distal Myopathy Sequence Analysis 39 GENES For full list of genes, please see website 20900 Congenital Muscular Dystrophy Sequence Analysis 25 GENES For full list of genes, please see website 24100 Congenital Myasthenic Syndrome Sequence Analysis 17 GENES AGRN, ALG2, ALG14, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A 20700 Congenital Myopathy Sequence Analysis 24 GENES For full list of genes, please see website 5260 Developmental Glaucoma Sequence Analysis 8 GENES BEST1, CYP1B1, FOXC1, MFRP, PAX6, PITX2, PITX3, VSX 5250 Familial Exudative Vitreoretinopathy Sequence Analysis 4 GENES FZD4, LRP5, NDP, TSPAN12 2095 Fatty Acid Oxidation Sequence Analysis 22 GENES For full list of genes, please see website 2125 Glycogen Metabolism Disorder Sequence Analysis 23 GENES For full list of genes, please see website 2126 Glycogen Storage Disease (GSD) Muscle Sequence Analysis 13 GENES AGL, GAA, GYG1, GYS1, LAMP2, LDHA, PCK2, PFKM, PGAM2, PGM1, PHKA1, PHKB, PYGM 2127 Glycogen Storage Disease (GSD) Liver Sequence Analysis 13 GENES AGL, FBP1, G6PC, GAA, GBE1, GYS2, PCK1, PHKA2, PHKB, PHKG2, PYGL, SLC2A2, SLC37A4 ANKH, CA2, CLCN7, CTSK, FAM123B, FAM20C, LEMD3, OSTM1, SOST, TCIRG1, TGFB1, 2200 High Bone Mass Sequence Analysis 14 GENES TNFRSF11A, TNFSF11, TYROBP 21700 Hyperinsulinism Sequence Analysis 8 GENES ABCC8, GCK, GLUD1, HADH, HNF4A, INSR, KCNJ11, SLC16A1 5090 Leber Congenital Amaurosis Sequence Analysis 19 GENES AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1 20601 Leigh Disease Sequence Analysis 91 GENES For full list of genes, please see website 2090 Low Bone Mass Sequence Analysis 23 GENES For full list of genes, please see website 32870 Maple Syrup Urine Disease (MSUD) Sequence Analysis 4 GENES BCKDHA, BCKDHB, DBT, DLD 21900 Maturity-Onset Diabetes of the Young (MODY) Sequence Analysis 25 GENES For full list of genes, please see website 2130 mtDNA Depletion/Integrity Sequence Analysis 20 GENES APTX, C10orf2, DGUOK, DNA2, FBXL4, GFER, MGME1, MPV17, OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A4, SPG7 SUCLA2, SUCLG1, SUCLG2, TK2, TYMP 2155 Mitochondrial Respiratory Chain Complex I Sequence Analysis 25 GENES For full list of genes, please see website 2160 Mitochondrial Respiratory Chain Complex II Sequence Analysis 6 GENES SDHA, SDHB, SDHC, SDHD, SDHAF1, SDHAF2 2165 Mitochondrial Respiratory Chain Complex III Sequence Analysis 4 GENES BCS1L, TTC19, UQCRB, UQCRQ COX10, COX15, COX4I1, COX4I2, COX6B1, COX7A1, FASTKD2, LRPPRC, SCO1, SCO2, 2170 Mitochondrial Respiratory Chain Complex IV Sequence Analysis 12 GENES SURF1, TACO1 2175 Mitochondrial Respiratory Chain Complex V Sequence Analysis 3 GENES ATPAF2 (ATP12), ATP5E, TMEM70 2180 Mitochondrial Respiratory Chain Complex I-V Sequence Analysis 50 GENES For full list of genes, please see website 24400 Muscular Dystrophy Sequence Analysis 36 GENES For full list of genes, please see website Page 2 of 10 LAST UPDATED: 8/3/2015 BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 MITOCHONDRIAL DNA (mtDNA) TEST REQUISITION NAME: DATE OF BIRTH: / / GENDER (Please select one): FEMALE MALE LAST NAME FIRST NAME MI MM DD YY UNKNOWN AVAILABLE MASSIVELY PARALLEL SEQUENCING (BCM-MitomeNGSSM) & MitoMet PANELS LISTED BY DISORDER 2300 Myopathy/Rhabdomyolysis Sequence Analysis 27 GENES For full list of genes, please see website 20200 Nephronophthisis Sequence Analysis 4 GENES NPHP1, INVS, NPHP3, NPHP4 21400 Noonan Spectrum Disorders Sequence Analysis 12 GENES BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1 20500 Omenn Syndrome 7 GENES DCLRE1C, IL7R, LIG4, NHEJ1, RAG1, RAG2, RMRP 2185 PDH & Mitochondrial RC Complex V Sequence Analysis 9 GENES ATPAF2 (ATP12), ATP5E, DLAT, DLD, PDHA1, PDHB, PDHX, PDP, TMEM70 22100 Peroxisomal Disorders Sequence Analysis 22 GENES For full list of genes, please see website 5255 Primary Open Angle Glaucoma Sequence Analysis 2 GENES MYOC, OPTN 5274 Proximal Urea Cycle Disorders Comprehensive Analysis 3 genes by NGS Sequence Analysis (5270) + 3 genes by Deletion/Duplication (5273) 5270 Proximal Urea Cycle Disorders Sequence Analysis 3 GENES CPS1, NAGS, OTC 5273 Proximal Urea Cycle Disorders Deletion/Duplication Analysis 3 GENES CPS1, NAGS, OTC C10orf2 (TWINKLE), MGME1, OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A4(ANT1), SPG7, 2140 Progressive External Ophthalmoplegia Sequence Analysis 10 GENES TK2 2190 Retinitis Pigmentosa Sequence Analysis 66 GENES For full list of genes, please see website 21500 Severe Combined Immunodeficiency Sequence Analysis 46 GENES For full list of genes, please see website 20300 Severe Combined Immunodeficiency Tier 1 Sequence Analysis 9 GENES ADA, CHD7, DCLRE1C, IL2RG, IL7R, JAK3, RAG1,
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