® Mitochondrial/Metabolic oligonucleotide array CGH analysis MitoMet® oligo aCGH disorder list ® One Baylor Plaza, Nab 2015, Houston, Texas 77030 One Baylor Plaza, Nab 2015, Houston, Texas713-798-6555 77030 • 713-798-6555 • 1-800-411-gene • 1-800-411-gene (4363) (4363) • www.bcmgeneticlabs.org b a y l o r c ollege of Medicine www.bcmgeneticlabs.org Medical Genetic Laboratories Genetic Medical Medicine of College Baylor he MitoMet® array contains Indications for Testing: muscle and liver are recommended. 1. MitoMet® aCGH analysis is Analysis on MitoMet® array will 60,000 oligonucleotide recommended for autosomal detect heteroplasmic mtDNA probes targeted to both mitochondrial recessive cases with one identified deletions. The analysis will also point mutation or apparent reveal approximate breakpoints and nuclear genes involved in homozygote. and copy number. mitochondrial and metabolic related 2. For autosomal dominant cases, Limitation of Testing: diseases. Approximately 3200 probes MitoMet® aCGH analysis of samples This analysis will not detect point negative on full gene sequence mutations or small deletion/duplication cover the entire 16.6 kb mitochondrial will detect heterozygous intragenic mutations. For mtDNA, the deletion of genome in the forward direction. In deletion or duplication. less than 200 bp and for nuclear genes deletion less than 300 kb may not be addition, the current array includes an 3. MitoMet® aCGH analysis is detected. Heteroplasmy of less than average exon coverage of about 6/exon recommended for cases where 15% may not be detected. PCR fails to amplify regions for oligo probes targeted to approximately sequence analysis. Testing Methodology: The data are analyzed using quantitative 4. MitoMet® aCGH analysis is imaging methods and analytical recommended for cases where software to assist in identifying each intragenic or multigenic compound targeted-DNA sequence as loss of heterozygous deletions or copy number (deletion in nuclear gene duplications are suspected. and depletion in mtDNA), gain of copy number (duplication in nuclear gene or 5. Quick screening for mitochondrial over-amplification in mtDNA) or normal DNA deletions and depletions. copy number. The relevant tissues such as 350 genes that are involved in mtDNA Specimen Requirements: Blood: EDTA (purple-top) tubes: Adult: 14 cc; Child/Infant: 6 cc biogenesis, maintenance of mitochondrial deoxynucleotide pools, mitochondrial Turnaround Time: transcription and translation factors, Turnaround times are available on our web site: www.bcmgeneticlabs.org respiratory chain complex assembly E-mail: [email protected] • Phone: (713) 798-5849 • Fax: (713) 798-4187 Baylor College of Medicine Medical Genetic Laboratories and complex subunits, urea cycle Shipping Information disorders, fatty acid oxidation, amino Forms: acid metabolism, creatine pathway, Mitochondrial Requisition - Mitochondrial Diagnostic Checklist is included progressive familial intrahepatic Test Code: cholestasis, newborn screening diseases, Index: 3500 plus many more. This array detects Known Familial Mutation: 3501 Prenatal: 3502 intragenic nuclear gene deletions/ duplications larger than 1 kb and mtDNA deletions larger than 200 bp. MitoMet® oligo aCGH V2.8 1 Disorder List Baylor College of Medicine Medical Genetic Laboratories Disorder Gene Disorder GENE COORDINATES OMIM# OMIM* AARS2 *612035 Chr. 6: 44,374,441-44,389,041 Progressive Familial Intrahepatic Cholestasis 2 (PFIC2) #601847 ABCB11 *603201 Chr. 2: 169,487,694-169,596,079 Progressive Familial Intrahepatic Cholestasis 3 (PFIC3) #602347 ABCB4 *171060 Chr. 7: 86,869,302-86,942,991 X-Linked Sideroblastic Anemia and Spinocerebellar Ataxia #301310 ABCB7 *300135 Chr. X: 74,189,834-74,292,857 Long Chain Acyl-CoA Dehydrogenase Dificiency (LCAD) #201460 ACADL *609576 Chr. 2: 210,760,963-210,798,405 Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) #201450 ACADM *607008 Chr. 1: 75,962,982-76,001,763 Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) #201470 ACADS *606885 Chr. 12: 119,648,025-119,662,193 Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency #610006 ACADSB *600301 Chr. 10: 124,758,419-124,807,796 (SBCAD) Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) #201475 ACADVL *609575 Chr. 17: 7,063,877-7,069,308 Mitochondrial Adenylate Kinase-2 AK2 *103020 Chr. 1: 33,246,173-33,275,079 Hereditary Fructose Intolerance #229600 ALDOB *612724 Chr. 9: 103,223,480-103,237,926 Ataxia with Oculomotor Apraxia 1 (AOA1) #208920 APTX *606350 Chr. 9: 32,962,609-32,991,626 Arginase Deficiency #207800 ARG1 *608313 Chr. 6: 131,936,058-131,947,161 Argininosuccinic Aciduria #207900 ASL *608310 Chr. 7: 65,178,249-65,195,375 Citrullinemia Type 1 #215700 ASS1 *603470 Chr. 9: 132,310,170-132,366,482 ATP12A *182360 Chr. 13: 24,152,695-24,183,918 Progressive Familial Intrahepatic Cholestasis 1 (PFIC1) #211600 ATP8B1 *602397 Chr. 18: 53,464,656-53,550,037 Mitochondrial Respiratory Chain Deficiency, Complex V #604273 ATPAF2 *608918 Chr. 17: 17,862,059-17,883,205 3-Methylglutaconic Aciduria (MGA) Type I #250950 AUH *600529 Chr. 9: 93,015,926-93,163,996 Maple Syrup Urine Disease, Type 1a #248600 BCKDHA *608348 Chr. 19: 46,595,544-46,622,749 Gracile Syndrome #603358 BCS1L *603647 Chr. 2: 219,232,676-219,236,410 Leigh Syndrome (nuclear genes) #256000 BCS1L *603647 Chr. 2: 219,232,676-219,236,410 Mitochondrial Respiratory Chain Complex III Deficiency, #124000 BCS1L *603647 Chr. 2: 219,232,676-219,236,410 BCS1L Related Biotinidase Deficiency #253260 BTD *609019 Chr. 3: 15,618,259-15,662,328 Mitochondrial Complex I Deficiency #252010 C6orf66 *611776 Chr. 6: 97,445,612-97,452,476 C11orf79 Hereditary Paragangliomas 2 #601650 *613019 Chr. 11: 60,954,173-60,970,801 (SDH5) C12orf65 Chr. 12: 122,283,416-122,308,459 C14orf156 *610211 Chr. 14: 77,244,188-77,253,690 C18orf22 Chr. 18: 75,895,346-75,907,373 CARS2 *612800 Chr. 13: 110,091,760-110,156,464 Homocystinuria, Cystathionine Beta-Synthase Deficiency CBS *236200 Chr. 21: 43,346,370-43,369,541 CCDC44 Leigh Syndrome (nuclear genes) #256000 *612958 Chr. 17: 59,031,973-59,039,456 (TACO1) Cardiomyopathy-associated protein 5 CMYA5 *612193 Chr. 5: 79,021,415-79,131,804 Coenzyme Q10 Deficiency #607426 COQ2 *609825 Chr. 4: 84,404,003-84,425,091 Coenzyme Q10 Deficiency (CABC1) #607426 COQ8 *606980 Chr. 1: 225,194,561-225,241,869 Spinocerebellar Ataxia (CABC1) #612016 COQ8 *606980 Chr. 1: 225,194,561-225,241,869 Coenzyme Q10 Deficiency #607426 COQ9 *612837 Chr. 16: 56,038,903-56,052,679 COX4I1 *123864 Chr. 16: 84,390,697-84,398,109 Exocrine Pancreatic Insufficiency #612714 COX4I2 *607976 Chr. 20: 29,689,352-29,696,461 One Baylor Plaza, Nab 2015, Houston, Texas 77030 • 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org MitoMet® oligo aCGH V2.8 2 Disorder List Baylor College of Medicine Medical Genetic Laboratories Disorder Gene Disorder GENE COORDINATES OMIM# OMIM* COX5A *603773 Chr. 15: 72,999,672-73,017,438 COX5B *123866 Chr. 2: 97,628,953-97,631,086 COX6A1 *602072 Chr. 12: 119,360,287-119,362,915 COX6A2 *602009 Chr. 16: 31,346,556-31,347,222 Mitochondrial Respiratory Chain Complex IV #220110 COX6B1 *124089 Chr. 19: 40,830,995-40,841,523 Deficiency (nuclear genes) COX6B2 Chr. 19: 60,552,888-60,557,994 COX6C *124090 Chr. 8: 100,959,548-100,975,071 COX7A1 *123995 Chr. 19: 41,333,664-41,335,611 COX7A2 *123996 Chr. 6: 76,004,223-76,010,245 COX7A2L *605771 Chr. 2: 42,431,146-42,441,860 COX7B *603792 Chr. X: 77,041,627-77,047,537 COX7B2 *609811 Chr. 4: 46,431,606-46,606,009 COX7C *603774 Chr. 5: 85,949,540-85,952,337 COX8A *123870 Chr. 11: 63,498,655-63,500,590 (COX8) COX8C Chr. 14: 92,883,290-92,884,453 Leigh Syndrome (nuclear genes) #256000 COX10 *602125 Chr. 17: 13,913,444-14,052,712 Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear #220110 COX10 *602125 Chr. 17: 13,913,444-14,052,712 genes) COX11 *603648 Chr. 17: 50,384,266-50,401,053 Leigh Syndrome (nuclear genes) #256000 COX15 *603646 Chr. 10: 101,461,596-101,481,890 Mitochondrial Respiratory Chain Complex IV Deficiency #220110 COX15 *603646 Chr. 10: 101,461,596-101,481,890 (nuclear genes) COX17 *604813 Chr. 3: 120,871,062-120,878,933 COX18 *610428 Chr. 4: 74,139,280-74,154,336 COX19 *610429 Chr. 7: 971,012-981,761 Carbamoyl-phosphate Synthetase I Deficiency #237300 CPS1 *608307 Chr. 2: 211,129,583-211,252,074 Carnitine Palmitoyltransferase IA Deficiency #255120 CPT1A *600528 Chr. 11: 68,278,666-68,365,850 CPT1B *601987 Chr. 22: 49,354,156-49,363,744 Carnitine Palmitoyltransferase II Deficiency, Late Onset #255110 CPT2 *600650 Chr. 1: 53,434,689-53,452,455 Carnitine Palmitoyltransferase II Deficiency, Infantile #600649 CPT2 *600650 Chr. 1: 53,434,689-53,452,455 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal #608836 CPT2 *600650 Chr. 1: 53,434,689-53,452,455 Thrombocytopenia; autosomal dominant, 4 #612004 CYCS *123970 Chr. 7: 25,124,802-25,131,480 DAP3 *602074 Chr. 1: 153,925,506-153,974,941 (MRPS29) Leukoencephalopathy with Brainstem and Spinal Cord Involvement #611105 DARS2 *610956 Chr. 1: 172,060,581-172,094,305 and Lactate Elevation Maple Syrup Urine Disease, Type II #248600 DBT *248610 Chr. 1: 100,425,072-100,487,997 Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form #251880 DGUOK *601465 Chr. 2: 74,007,461-74,039,596 Maple Syrup Urine Disease, Type III #248600 DLD *238331 Chr. 7: 107,318,822-107,348,879 Leigh Syndrome (nuclear genes) #256000 DLD *238331 Chr. 7: 107,318,822-107,348,879 DNA2 *601810 Chr. 10: 69,843,827-69,901,885 One Baylor Plaza, Nab 2015, Houston, Texas 77030 • 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org MitoMet® oligo aCGH V2.8 3 Disorder List Baylor College of Medicine Medical Genetic Laboratories Disorder Gene Disorder GENE COORDINATES OMIM# OMIM* 3-Methylglutaconic Aciduria (MGA) Type V #610198 DNAJC19 *608977 Chr.