UNIVERSITY OF MINNESOTA PHYSICIANS OUTREACH LABS Submit this form along with the appropriate Molecular requisition (Molecular Diagnostics or MOLECULAR DIAGNOSTICS (612) 273-8445 Molecular NGS Oncology). DATE: TIME COLLECTED: PCU/CLINIC: AM PM PATIENT IDENTIFICATION DIAGNOSIS (Dx) / DIAGNOSIS CODES (ICD-9) - OUTPATIENTS ONLY SPECIMEN TYPE: o Blood (1) (2) (3) (4) PLEASE COLLECT 5-10CC IN ACD-A OR EDTA TUBE ORDERING PHYSICIAN NAME AND PHONE NUMBER: Tests can be ordered as a full panel, or by individual gene(s). Please contact the genetic counselor with any questions at 612-624-8948 or by pager at 612-899-3291. ______Test Ordered- EPIC: Next generation sequencing(Next Gen) Sunquest: NGS
FBN1 Connective tissue Asphyxiating thoracic dystrophy Cranioectodermal dysplasia 2 disorders Full panel WDR35 IFT80 Achondrogenesis DYNC2H1 Craniolenticulosutural dysplasia Full panel TTC21B SEC23A SLC26A2 WDR19 Craniosynostosis TRIP11 Atelosteogenesis Full panel COL2A1 Full panel FGFR2 Achondroplasia SLC26A2 IL11RA FGFR3 FLNB CYP26B1 Acrocapitofemoral dysplasia Brachydactyly TWIST1 IHH Full panel MSX2 Acrodysostosis GDF5 FGFR1 Full panel BMP2 FGFR3 PRKAR1A PTHLH PDE4D Brachyolmia Cutis laxa Acrofacial dysostosis Full panel Full panel Full panel PAPSS2 ATP6V0A2 SF3B4 TRPV4 EFEMP2 DHODH Campomelic dysplasia with autosomal PYCR1 Acromesomelic dysplasia sex reversal ALDH18A1 Full panel SOX9 GDF5 Camurati-Engelmann disease De la Chapelle dysplasia NPR2 TGFB1 SLC26A2 Alport syndrome Cenani-Lenz syndactyly syndrome Full panel Desbuquois syndrome COL4A3 LRP4 CANT1 COL4A4 COL4A5 Chondrocalcinosis Diaphanospondylodysostosis Aortopathy ANKH BMPER Full panel MYH11 Chondrodysplasia Diaphyseal medullary stenosis with ACTA2 Full panel malignant fibrous histiocytoma MYLK IMPAD1 MTAP SLC2A10 PTH1R FBN2 BMPR1B Diastrophic dysplasia COL5A2 SLC26A2 COL5A1 Cleidocranial dysplasia Dyssegmental dysplasia, Silverman- COL3A1 RUNX2 Handmaker type CBS HSPG2 TGFBR1 Craniodiaphyseal dysplasia, autosomal TGFBR2 dominant Ectopia lentis et pupillae SMAD3 SOST ADAMTSL4 4/1/2014 Version 1 Metaphyseal anadysplasia Osteopoikilosis Ehlers Danlos syndrome Full panel LEMD3 Full panel MMP13 Paget disease, juvenile FLNA MMP9 TNFRSF11B FKBP14 Metaphyseal chondrodysplasia Polydactyly, preaxial type II CHST14 Full panel LMBR1 B4GALT7 PTH1R Pycnodysostosis B3GALT6 COL10A1 CTSK COL5A2 Metaphyseal dysplasia with maxillary Raine syndrome COL5A1 hypoplasia with or without FAM20C COL1A1 brachydactyly Robinow syndrome COL3A1 RUNX2 Full panel PLOD1 Mirror-image polydactyly WNT5A COL1A2 MIPOL1 ROR2 ADAMTS2 Multicentric carpotarsal osteolysis Schneckenbecken dysplasia SLC39A13 syndrome SLC35D1 Eiken syndrome MAFB Short rib-polydactyly syndrome PTH1R Multicentric osteolysis, nodulosis, and Full panel Fibrodysplasia ossificans progressiva arthropathy NEK1 Full panel MMP2 DYNC2H1 ACVR1 Multiple epiphyseal dysplasia WDR35 BMP4 Full panel Small patella syndrome Geleophysic dysplasia COMP TBX4 ADAMTSL2 COL9A2 Split hand/foot malformation frontonasal dysplasia COL9A3 Full panel Full panel SLC26A2 SHFM1 ALX3 MATN3 DLX5 ALX4 COL9A1 WNT10B ALX1 Multiple pterygium syndrome TP63 HEM skeletal dysplasia CHRNG Spondylo-megaepiphyseal-metaphyseal LBR Omodysplasia dysplasia Hereditary multiple exostoses GPC6 Full panel Osteogenesis imperfecta NKX3-2 EXT1 Full panel Spondylocarpotarsal synostosis EXT2 COL1A1 syndrome Hypertrophic osteoarthropathy, COL1A2 primary, autosomal recessive 2 PPIB SCT SLCO2A1 IFITM5 Spondylocostal dysostosis Langer mesomelic dysplasia SERPINF1 SHOX CRTAP Full panel Laron dwarfism LEPRE1 DLL3 GHR SERPINH1 MESP2 Leiomyomatosis, diffuse, with Alport FKBP10 LFNG syndrome SP7 HES7 COL4A6 BMP1 Spondyloenchondrodysplasia Leri-Weill dyschondrosteosis Osteopathia striata with cranial sclerosis SHOX AMER1 ACP5 Loeys-Dietz syndrome Osteopetrosis Spondyloepimetaphyseal dysplasia Full panel Full panel TGFBR1 CLCN7 Full panel TGFBR2 TCIRG1 ACAN SMAD3 TNFSF11 KIF22 TGFB2 CA2 MMP13 TGFBR1 OSTM1 TRAPPC2 TGFBR2 PLEKHM1 WISP3 Marfan syndrome TNFRSF11A CHST3 FBN1 SNX10 DDR2 B3GALT6 4/1/2014 Version 1 Stickler syndrome AKR1C2 Kallmann syndrome 1 Full panel 17-alpha-hydroxylase/17,20-lyase KAL1 COL2A1 deficiency Leydig cell hypoplasia with COL11A1 CYP17A1 pseudohermaphroditism COL11A2 Adrenal hyperplasia, congenital, due to LHCGR
COL9A1 11-beta-hydroxylase deficiency Lipoid adrenal hyperplasia Stuve-Wiedemann syndrome/Schwartz- CYP11B1 Jampel type 2 syndrome STAR Adrenal insufficiency, congenital, with LIFR Mullerian aplasia and hyperandrogenism 46XY sex reversal, partial or complete synpolydactyly CYP11A1 WNT4 HOXD13 PERSISTENT MULLERIAN DUCT Synpolydactyly, 3/3'4, associated with Alpha-thalassemia/mental retardation SYNDROME metacarpal and metatarsal synostoses syndrome FBLN1 ATRX AMH Thanatophoric dysplasia Androgen insensitivity AMHR2 FGFR3 AR Pseudohermaphroditism, male, with Treacher Collins syndrome gynecomastia Antley-Bixler syndrome with genital Full panel HSD17B3 anomalies and disordered
TCOF1 steroidogenesis Short rib-polydactyly syndrome POLR1D POR Full panel POLR1C Aromatase deficiency Ulna and fibula, absence of, with sever NEK1 limb deficiency CYP19A1 DYNC2H1 WNT7A Campomelic dysplasia with autosomal WDR35 Van Buchem disease sex reversal Smith Lemli Opitz syndrome SOST SOX9 DHCR7 Weill-Marchesani syndrome CHARGE syndrome Full panel Sudden infant death with dysgenesis of CHD7 ADAMTS10 the testes syndrome ADAMTS17 Cryptorchidism TSPYL1 Full panel Chrondrodysplasia, acromesomelic, with genital anomalies INSL3 BMPR1B RXFP2 Testicular anomalies with or without
Disorders of sex Desmosterolosis congenital heart disease development DHCR24 GATA4 Denys-Drash syndrome 3-beta-hydroxysteroid dehydrogenase, type II, deficiency WT1 HSD3B2 Disorders of sex development
46,XY ovotesticular DSD EMX2
FGF9 DMRT1 ZFPM2 46,XY sex reversal Fraser syndrome
Full panel Full panel
AKR1C4 FRAS1 SRY FREM2
RSPO1 GRIP1
SRY Hypospadias 2, X-linked NR0B1 MAMLD1
NR5A1 Pseudovaginal perineoscrotal hypospadias CBX2 SRD5A2
MAP3K1 IMAGE syndrome DHH CDKN1C
4/1/2014 Version 1
Intellectual AFF2 PHF8
disability NLGN4X
Autosomal domimant intellectual IQSEC2 disability RPS6KA3
Full panel IL1RAPL1 SCN8A ARX MBD5 PAK3 CACNG2
GDI1 EPB41L1 ZNF81 ARID1B ARHGEF6 ARID1A
TSPAN7 SMARCB1 ACSL4 SMARCA4 RAB39B CTNNB1 AGTR2 DOCK8 ZNF41 ZBTB18 FTSJ1 CDH15 DLG3 KIRREL3
ZDHHC15 SYNGAP1 ZNF674 GRIN2B BRWD3
DYRK1A GRIA3 GRIN1 SYP KIF1A ZNF711 Autosomal recessive intellectual disability KIAA2022
Full panel HSD17B10 FGD1 ANK3 PRSS12 SLC9A6
ST3GAL3 UBE2A ZDHHC9 TRAPPC9 TECR HUWE1
MAN1B1 SMS
MED23 UPF3B CRBN CLIC2
CC2D1A KDM5C
CC2D1A RAB40AL CRADD SOX3
HERC2 PQBP1
TTI2 SHROOM4 NSUN2 AP1S2
TUSC3 CUL4B
DIP2B FOXP1
X-linked Intellectual disability
Full panel PHF6
FMR1 (sequence) 4/1/2014 Version 1 Aural atresia Camptodactyly-arthropathy- Syndromes TSHZ1 coxa vara-pericarditis syndrome 3M syndrome Auriculocondylar syndrome PRG4 Full panel PLCB4 Carpenter syndrome CUL7 Autoimmune disease, RAB23 OBSL1 syndromic multisystem Cerebellar ataxia, mental CCDC8 ITCH retardation, and dysequilibrium 3MC syndrome Autoinflammation, syndrome 2 Full panel lipodystrophy, and dermatosis WDR81 MASP1 syndrome Cerebral dysgenesis, COLEC11 PSMB8 neuropathy, ichthyosis, and Aarskog-Scott syndrome Bamforth-Lazarus syndrome palmoplantar keratoderma FGD1 FOXE1 syndrome Abruzzo-Erickson syndrome Bardet Biedl syndrome SNAP29 TBX22 Full panel CHARGE syndrome Adams-Oliver BBS1 CHD7 Full panel BBS10 SEMA3E ARHGAP31 TRIM32 CHILD syndrome DOCK6 BBS12 NSDHL ADULT syndrome MKS1 CHIME syndrome TP63 CEP290 PIGL Aicardi-goutieres syndrome WDPCP Choanal atresia and Full panel SDCCAG8 lymphedema TREX1 BBS2 PTPN14 RNASEH2B ARL6 CK syndrome RNASEH2C BBS4 NSDHL RNASEH2A BBS5 Cleft palate and mental SAMHD1 MKKS retardation ADAR BBS7 SATB2 Alagille syndrome TTC8 Clubfoot, congenital, with or Full panel BBS9 without deficiency of long JAG1 Birk-Barel mental retardation bones and/or mirror-image NOTCH2 dysmorphism syndrome polydactyly Alopecia, neurologic defects, KCNK9 PITX1 and endocrinopathy syndrome Blepharophimosis, epicanthus Cocoon syndrome RBM28 inversus, and ptosis, type 2 CHUK Alpha-thalassemia/mental FOXL2 Coffin-Lowry syndrome retardation syndrome Borjeson-Forssman-Lehmann RPS6KA3 ATRX syndrome Cohen syndrome Angelman syndrome PHF6 VPS13B Full panel Bosley-Salih-Alorainy syndrome Congenital cataracts, facial Methylation analysis HOXA1 dysmorphism, and neuropathy SLC9A6 Bowen-Conradi syndrome UBE3A EMG1 CTDP1 Arthrogryposis Brachydactyly-mental Congenital hypothyroidism Full panel retardation syndrome TPM2 HDAC4 PAX8 TNNI2 Brooke-Spiegler syndrome Cornelia de Lange syndrome MYBPC1 CYLD MYH3 Bruck syndrome 2 Full panel MYH8 PLOD2 NIPBL GLE1 Brunner syndrome SMC1A VPS33B MAOA SMC3 VIPAS39 C syndrome (Opitz RAD21 TNNT3 Trignocephaly) HDAC8 Athabaskan brainstem CD96 Cousin syndrome dysgenesis syndrome C-like syndrome HOXA1 ASXL1 TBX15
4/1/2014 Version 1 Cranioectodermal dysplasia EVC2 Hemorrhagic destruction of the Full panel Emberger syndrome brain, subependymal IFT122 GATA2 calcification, and cataracts WDR35 Encephalopahty, lethal, due to JAM3 IFT43 defective mitochondrial Hennekam lymphangiectasia- WDR19 peroxisomal fission lymphedema syndrome Craniofacial anomalies and DNM1L CCBE1 anterior segment dysgenesis Endocrine- Hereditary hemorrhagic syndrome cerebroosteodysplasia telangiectasia VSX1 ICK Full panel Craniofacial dysmorphism, Feingold syndrome SMAD4 skeletal anomalies, and mental MYCN ENG retardation syndrome MIR17HG ACVRL1 TMCO1 Floating-Harbor syndrome Hirschsprung disease, cardiac Craniofrontonasal dysplasia SRCAP defects, and autonomic EFNB1 Frank-ter Haar syndrome dysfunction Craniometaphyseal dysplasia, SH3PXD2B ECE1 autosomal recessive Fraser syndrome Histiocytosis-lymphadenopathy GJA1 Full panel plus syndrome Craniosynostosis and dental FRAS1 SLC29A3 anomalies FREM2 Hydrolethalus syndrome IL11RA GRIP1 HYLS1 Craniosynostosis with Fuhrmann syndrome KIF7 radiohumeral fusions and other WNT7A Hypermanganesemia with skeletal and craniofacial Gaze palsy, horizontal, with dystonia, polycythemia, and anomalies progressive scoliosis cirrhosis CYP26B1 ROBO3 SLC30A10 Currarino syndrome Genitopatellar syndrome Hyperphosphatasia with mental MNX1 KAT6B retardation syndrome 1 Cystic fibrosis Geroderma osteodysplasticum PIGV CFTR GORAB PIGO Deafness, dystonia, and Greig cephalopolysyndactyly Hypertrophic osteoarthropathy, cerebral hypomyelination syndrome primary, autosomal recessive 1 BCAP31 GLI3 HPGD Desmosterolosis Griscelli syndrome Hypoparathyroidism- DHCR24 RAB27A retardation-dysmorphism Diabetes mellitus, permanent MYO5A syndrome neonatal, with cerebellar MLPH TBCE agenesis Growth retardation with Hypoparathyroidism, PTF1A deafness and mental sensorineural deafness, and DONOHUE SYNDROME / retardation due to IGF1 renal dysplasia Leprechaunism deficiency GATA3 INSR IGF1 Hypotrichosis-lymphedema- DOOR syndrome Growth retardation, telangiectasia syndrome TBC1D24 developmental delay, coarse SOX18 Duane-radial ray syndrome facies, and early death IFAP syndrome with or without SALL4 FTO BRESHECK syndrome Dursun syndrome Guttmacher syndrome MBTPS2 G6PC3 HOXA13 Immunodeficiency-centromeric Dyggve-Melchior-Clausen Hamamy syndrome instability-facial anomalies syndrome IRX5 syndrome-2 DYM Hand-foot-uterus syndrome ZBTB24 Eagle Barrett syndrome/ Prune HOXA13 Infections, recurrent, with Belly Hartnup disorder encephalopathy, hepatic dysfunction, and cardiovasuclar CHRM3 SLC6A19 malformations Ellis-van Creveld syndrome Hay-Wells syndrome
Full panel FADD EVC TP63
4/1/2014 Version 1 IVIC syndrome Limb-mammary syndrome Microcephaly and SALL4 TP63 chorioretinopathy with or Johanson-Blizzard syndrome Lujan-Fryns syndrome without mental retardation UBR1 MED12 TUBGCP6 Joubert Syndrome Lysyl hydroxylase 3 deficiency Microphthalmia with limb TCTN2 PLOD3 anomalies INPP5E Macrocephaly, alopecia, cutis SMOC1 OFD1 laxa, and scoliosis Microphthalmia, syndromic 11 KIF7 RIN2 VAX1 TCTN1 Macrocephaly, macrosomia, Miller syndrome TMEM237 facial dysmorphism syndrome DHODH CEP41 RNF135 Mosaic variegated aneuploidy TMEM138 Mandibular hypoplasia, syndrome C5orf42 deafness, progeroid features, BUB1B TMEM216 and lipodystrophy syndrome CEP57 NPHP1 POLD1 Muckle-Wells syndrome CEP290 Mandibuloacral dysplasia with NLRP3 TMEM67 type B lipodystrophy Mulibrey nanism TTC21B ZMPSTE24 TRIM37 RPGRIP1L Mandibulofacial dysostosis, Multiple congenital anomalies- ARL13B Guion-Almeida type hypotonia-seizures syndrome 1 CC2D2A EFTUD2 AHI1 Manitoba oculotrichoanal PIGN Kabuki syndrome syndrome / trignocephaly PIGA KMT2D FREM1 Multiple joint dislocations, KDM6A Marshall-Smith syndrome short stature, craniofacial KBG syndrome NFIX dysmorphism, and congenital ANKRD11 Martinez-Frias syndrome heart defects
Kenny-Caffey syndrome-1 RFX6 B3GAT3 TBCE MASP2 deficiency
Keutel syndrome MASP2 Myopathy, mitochondrial progressive, with congenital MGP McCune-Albright syndrome cataract, hearing loss, and Kleefstra syndrome GNAS developmental delay EHMT1 Meckel syndrome
Klippel-Feil syndrome Full panel GFER GDF3 MKS1 Nance-Horan syndrome Knobloch syndrome 1 TMEM216
COL18A1 TMEM67 NHS Kohlschutter-Tonz syndrome CEP290 Natural killer cell and ROGDI RPGRIP1L CC2D2A glucocorticoid deficiency with Koolen-De Vries syndrome DNA repair defect NPHP3 KANSL1 TCTN2 Kowarski syndrome MCM4 B9D1 GH1 Nephropathy with pretibial B9D2 LADD syndrome epidermolysis bullosa and MEDNIK syndrome FGF10 deafness AP1S1 Legius syndrome Meier-Gorlin syndrome SPRED1 CD151 Full panel Lesch-Nyhan syndrome Neurofibromatosis 1 ORC1 HPRT1 ORC4 Lethal congenital contractural NF1 ORC6 syndrome Neurofibromatosis 2
GLE1 CDT1
ERBB3 CDC6 NF2
MYBPC1 Mental retardation, anterior Nicolaides-Baraitser syndrome Liebenberg syndrome maxillary protrusion, and strabismus PITX1 SMARCA2 SOBP 4/1/2014 Version 1 Noonan syndrome Progeria Simpson-Golabi-Behmel Full panel LMNA syndrome MAP2K1 BANF1 GPC3 MAP2K2 Proliferative vasculopathy and OFD1 HRAS hydraencephaly-hydrocephaly Sjögren-Larsson syndrome PTPN11 syndrome ALDH3A2 KRAS FLVCR2 Skeletal defects, genital SOS1 Psychomotor retardation, hypoplasia, and mental RAF1 epilepsy, and craniofacial retardation NRAS dysmorphism ZBTB16 BRAF SNIP1 Smith Lemli Opitz syndrome SHOC2 Rabson-Mendenhall syndrome DHCR7 Obesity, hyperphagia, and INSR Sotos Syndrome developmental delay Rapp-Hodgkin syndrome Full panel NTRK2 TP63 NSD1 Oculoauricular syndrome Restrictive dermopathy, lethal NFIX HMX1 ZMPSTE24 STAR syndrome Odontotrichomelic syndrome Rett Syndrome FAM58A ANTXR1 CDKL5 Sudden infant death with Ohdo syndrome, X-linked MECP2 dysgenesis of the testes MED12 Reynolds syndrome syndrome Opitz-Kaveggia syndrome LBR TSPYL1 MED12 RIDDLE syndrome T-cell immunodeficiency, Orofaciodigital syndrome RNF168 congenital alopecia, and nail TCTN3 Rienhoff syndrome dystrophy C5orf42 TGFB3 FOXN1 Oto-cephaly dysgnathia Rigidity and multifocal seizure T-cell immunodeficiency, complex syndrome, lethal neonatal recurrent infections, OTX2 BRAT1 autoimmunity, and cardiac Oto-cephaly dysgnathia Robinow-Sorauf syndrome malformations complex TWIST1 STK4 PRRX1 Rubinstein-Taybi syndrome TARP syndrome Otofaciocervical syndrome 2 CREBBP RBM10 PAX1 EP300 Temtamy preaxial Pancreatic agenesis and Saethre-Chotzen syndrome brachydactyly syndrome congenital heart defects TWIST1 CHSY1 GATA6 SBBYSS syndrome Tetra-amelia, autosomal Parkes Weber syndrome KAT6B recessive RASA1 Schinzel-Giedion midface WNT3 Perlman syndrome retraction syndrome Trichohepatoenteric syndrome DIS3L2 SETBP1 TTC37 Phelan-McDermid syndrome Schopf-Schulz-Passarge SKIV2L SHANK3 syndrome Trichorhinophalangeal Polyhydramnios, WNT10A syndrome, type I megalencephaly, and Schwartz-Jampel syndrome, TRPS1 symptomatic epilepsy type 1 Trichothiodystrophy, STRADA HSPG2 nonphotosensitive 1 Popliteal pterygium syndrome Short stature, optic nerve MPLKIP IRF6 atrophy, and Pelger-Huet Trismus-pseudocamptodactyly RIPK4 anomaly syndrome Prader-Willi-like syndrome MYH8 NBAS Tuberous scelrosis MAGEL2 SHORT syndrome TSC1 Primary aldosteronism, TSC2 seizures, and neurologic PIK3R1 Ulnar-mammary syndrome abnormalities Shprintzen-Goldberg syndrome TBX3 Urofacial syndrome 1 CACNA1D SKI HPSE2 4/1/2014 Version 1 VACTERL Full panel HOXD13 ZIC3 Van den Ende-Gupta syndrome SCARF2 van der Woude syndrome IRF6 VATER association with macrocephaly and ventriculomegaly PTEN Weaver syndrome EZH2 Weill-Marchesani syndrome 3, recessive LTBP2 Weyers acrodental dysostosis EVC Wilson-Turner syndrome HDAC8 Winchester syndrome MMP14 Wolcott-Rallison dysplasia EIF2AK3 Wolfram syndrome Full panel WFS1 CISD2 X-linked mental retardation with short stature, hypogonadism and abnormal gait CUL4B
4/1/2014 Version 1