COMPREHENSIVE MOLECULAR DIAGNOSIS
HUMAN GENETIC DISORDERS
One Baylor Plaza, Nab 2015, Houston, Texas 77030 713-798-6555 • 1-800-411-gene (4363) www.bcmgeneticlabs.org • www.bcm.edu Comprehensive Molecular Diagnosis Mitochondrial • Metabolic • Eye • Bone • SCID/Immunodeficiency • Noonan Syndrome and Related • Neuromuscular
he Medical Genetics Laboratories (MGL) at Baylor College of Medicine are committed to providing quality genetic testing services relevant to patient care today. Working in close collaboration with clinical experts, the MGL continues to develop comprehensive molecular testing for a growing list of disorders, including bone, ciliopathy, eye, immunodeficiency, Noonan spectrum, metabolic, and many others.
For more information on ordering these or to get information on any of our other panels, please visit our website www.bcmgeneticlabs. org or call 1-800-411-GENE (4363).
Reasons to use BCM’s Medical Genetics Laboratories for your panel testing needs:
• 100% deep coverage (average 800X) by capture/NGS of all coding regions and exon/ intron boundaries of individual genes in the panel.
• Regions with pseudogenes or high GC content Shipping Information: are analyzed by PCR/Sanger Sequencing. • Fill out the appropriate laboratory requisition form - an incomplete form • Detection of point mutations and insertions/ will delay testing. Go to www.bcm.geneticlabs.org to see specific specimen deletions, with the option to simultaneously requirements and shipping conditions. detect exonic deletions. • Label all specimen tubes with full name and date of birth of the patient. Provide • Board certified, leading experts in clinical and billing information. If we are billing patient insurance, provide a copy of the diagnostic interpretation. front and back of the insurance card.
• Competitive price and turnaround time for all • For additional information, contact the laboratories at 713-798-6555 or NGS based tests. 1-800- 411-GENE (4363).
Sample Shipping Address: Baylor College of Medicine Medical Genetics Laboratories 2450 Holcombe Grand Blvd. - Receiving Dock Houston, Texas 77021-2024
SKELETAL DISORDERS
SKELETAL DISORDERS
Number Panel Name Test code Gene Name* of Genes
ALPL, B4GALT7, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, Low Bone Mass Panel by Massively FBN1, FKBP10, IFITM5, LEPRE1, 2090 22 Parallel Sequencing PLOD2, PLOD3, PPIB, SERPINF1, SLC34A1, SLC39A13, SLC9A3R1, SP7, TNFRSF11A and TNFRSF11B ANKH, CA2, CLCN7, CTSK, High Bone Mass Panel by FAM123B, FAM20C, LEMD3, 2200 14 Massively Parallel Sequencing OSTM1, SOST, TCIRG1, TGFB1, TNFRSF11A, TNFSF11, and TYROBP Collagen, Type I, Alpha 1/2 Panel 2625 2 COL1A1, COL1A2 by Massively Parallel Sequencing Collagen, Type I, Alpha 1/2 Panel by Massively Parallel Sequencing 2627 2 COL1A1, COL1A2 (Prenatal)
*Single gene Sanger Sequencing and Targeted Deletion/Duplication analysis are also available.
One Baylor Plaza, Nab 2015, Houston, Texas 77030 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org • www.bcm.edu
9/2014 EYE DISORDERS
EYE DISORDERS
Number Panel Name Test code Gene name* of Genes
AP3B1, BLOC1S3, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS,5 Albinism Panel 20100 13 HPS6, OCA2, SLC45A2, TYR & TYRP1 BEST1, CYP1B1, FOXC1; Developmental Glaucoma Panel 5260 9 MFRP,PAX6, PITX2, PITX3, VSX Familial Exudative 5253 4 FZD4, LRP5, NDP, TSPAN12 Vitreoretinopathy Panel AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, Leber Congenital 5090 19 LCA5, LRAT, NMNAT1, OTX2, RD3, Amaurosis Panel RDH12, RPE65, RPGRIP1, SPATA7, TULP1 Primary Open Angle Glaucoma 5255 2 MYOC, OPTN Panel Retinitis Pigmentosa Panel 2190 66 ABCA4, ABHD12 , AIPL1, BEST1, C2orf71, C8orf37, CA4, CDHR1, CEP290, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, GUCY2D, IDH3B, IMPDH1, IMPG2, KLHL7, LCA5, LRAT, MAK, MERTK, MFRP, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RBP3, RD3, RDH12, RGR, RHO(OPN2), RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF513 Usher Syndrome Panel 2195 9 CDH23, CLRN1, DFNB31, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A
*Single gene Sanger Sequencing and Targeted Deletion/Duplication analysis are also available.
One Baylor Plaza, Nab 2015, Houston, Texas 77030 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org • www.bcm.edu
9/2014 METABOLIC DISORDERS
METABOLIC DISORDERS
Number of Panel Name Test code Gene name* Genes
ABCB11, ATP8B, ABCB4, JAG1, Cholestasis/PFIC Panel 2105 7 SLC25A13, SERPINA1, AKR1D1
ABCD4, ACSF3, CBS, CD320, GIF, HCFC1, IVD, LMBRD1, MCEE, Cobalamin Metabolism 2120 20 MMAA, MMAB, MMACHC, Disorders Panel MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1, SUCLG2, TCN2
ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG11, ALG12, ALG13, ATP6V0A2, B4GALT1, COG1, COG4, COG5, COG6, COG7, Congenital Disorders of COG8, DDOST, DOLK, DPAGT1, 5095 36 Glycosylation (CDG) Panel DPM1, DPM3, GNE, MGAT2, MOGS, MPDU1, MPI, NGLY1, PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SRD5A3, TMEM165, and TUSC3 PDSS1, PDSS2, COQ2, COQ9, CoQ10 Deficiency Panel 2100 5 ADCK3 (COQ8/CABC1) ACAD9, ACADL, ACADM, ACADS, ACADVL, CPT1A, CPT1B, CPT2, Fatty Acid Oxidation ETFA, ETFB, ETFDH, HADHA, 2095 22 Deficiency Panel HADHB, LPIN1, SLC22A5, SLC25A20, TAZ, GLUD1, HMGCL, HMGCS2, HSD17B10, HADH AGL, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, Glycogen Storage Disease (GSD) PCK1, PCK2, PFKM, PGAM2, 2125 23 Comprehensive Panel PGM1, PHKA1, PHKA2, PHKB, PHKG2, PYGL, PYGM, SLC2A2, SLC37A4
continued
One Baylor Plaza, Nab 2015, Houston, Texas 77030 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org • www.bcm.edu
9/2014 METABOLIC DISORDERS
METABOLIC DISORDERS contined
Number of Panel Name Test code Gene name* Genes
AGL, FBP1, G6PC, GAA, GBE1, Glycogen Storage Disease (GSD) 2127 13 GYS2, PCK1, PHKA2, PHKB, Liver Panel PHKG2, PYGL, SLC2A2, SLC37A4 AGL, GAA, GYG1, GYS1, LAMP2, Glycogen Storage Disease (GSD) 2126 13 LDHA, PCK2, PFKM, PGAM2, Muscle Panel PGM1, PHKA1, PHKB, PYGM
ABCC8, GCK, GLUD1, HADH, Hyperinsulinism 21700 8 HNF4A, INSR, KCNJ11, SLC16A1
Maple Syrup Urine Disease (MSUD) 32870 4 BCKDHA, BCKDHB, DBT, DLD Panel ABCC8, AKT2, BLK, CISD2, CP, EIF2AK3, FOXP3, GATA6, GCK, Maturity Onset Diabetes of the GLIS3, HNF1A, HNF1B, HNF4A, 21900 25 Young (MODY) IER3IP1, INS, KCNJ11, KLF11, NEUROD1, NEUROG3, PAX4, PDX1, PTF1A, RFX6, SLC2A2, WFS1 ACADL, ACADM, ACADVL, ACAD9, AGL, C10orf2, CPT1B, CPT2, GAA, GYS1, HADHA, HADHB, LPIN1, Myopathy/Rhabdomyolysis Panel 2300 27 OPA1, OPA3, PFKM, PGAM2, PGM1, PHKA1, POLG, POLG2, PYGM, RRM2B, SLC22A5/OCTN2, SUCLA2, TK2, TYMP AP3B1, BLOC1S3, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS,5 Peroxisomal Disorders Panel 22100 22 HPS6, OCA2, SLC45A2, TYR & TYRP1 Proximal Urea Cycle Disorders 5270 3 CPS1, NAGS, OTC Panel CPS1, NAGS, OTC, ASS1, ASL, UCD and Hyperammonemia Panel 2110 8 ARG1, SLC25A13, SLC25A15
*Single gene Sanger Sequencing and Targeted Deletion/Duplication analysis are also available.
One Baylor Plaza, Nab 2015, Houston, Texas 77030 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org • www.bcm.edu IMMUNODEFICIENCY DISORDERS
IMMUNODEFICIENCY DISORDERS
Number of Panel Name Test code Gene name* Genes
DCLRE1C, IL7R, LIG4, NHEJ1, Omenn Syndrome Panel 20500 7 RAG1, RAG2, RMRP
ADA, AK2, AP3B1, CASP8, CD3D, CD3E, CD3G, CHD7, CD8A, CIITA, CORO1A, DCLRE1C, DOCK8, FOXN1, FOXP3, IKZF1, IL2RG, IL7R, ITK, JAK3, LCK, LIG4, LYST, NHEJ1, SCID Comprehensive 21500 46 ORAI1, PNP, PRF1, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP, RMRP, SH2D1A, STAT5B, STIM1, STX11, STXBP2, TAP1, TBX1, TTC7A, UNC13D, XIAP, ZAP70 ADA, CHD7, DCLRE1C, IL2RG, IL7R, SCID Tier 1 Panel 20300 9 JAK3, RAG1, RAG2, TBX1
*Single gene Sanger Sequencing and Targeted Deletion/Duplication analysis are also available.
One Baylor Plaza, Nab 2015, Houston, Texas 77030 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org • www.bcm.edu
9/2014
Crop page to 10.6” depth NOONAN SPECTRUM DISORDERS
NOONAN SPECTRUM DISORDERS
Number Panel Name Test code Gene name* of Genes
Noonan Spectrum 21400 12 Disorders Panel BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, Noonan Spectrum Disorders Panel 21402 12 RIT1, SHOC2, and SOS1 (Prenatal)
*Single gene Sanger Sequencing and Targeted Deletion/Duplication analysis are also available.
One Baylor Plaza, Nab 2015, Houston, Texas 77030 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org • www.bcm.edu
9/2014
Crop page to 10.6” depth CILIOPATHY
CILIOPATHY
Number of Panel Name Test code Gene Names* Genes
ARL6,BBS1, BBS10, BBS12, BBS2, Bardet-Biedl Syndrome BBS4, BBS5, BBS7, BBS9, CCDC28B, 20400 18 (BBS) Panel CEP290, LZTFL1, MKKS, MKS1, TMEM67, TRIM32, TTC8, WDPCP Nephronophthisis Panel 20200 4 NPHP1, INVS, NPHP3, NPHP4
*Single gene Sanger Sequencing and Targeted Deletion/Duplication analysis are also available.
One Baylor Plaza, Nab 2015, Houston, Texas 77030 713-798-6555 • 1-800-411-gene (4363) • www.bcmgeneticlabs.org • www.bcm.edu
9/2014
Crop page to 10.6” depth COMPREHENSIVE MOLECULAR DIAGNOSIS
HUMAN GENETIC DISORDERS
One Baylor Plaza, Nab 2015, Houston, Texas 77030 713-798-6555 • 1-800-411-gene (4363) www.bcmgeneticlabs.org • www.bcm.edu