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Accredited for compliance with NPAAC Standards and ISO 15189 NIFTYTM Plus - Microdeletion/duplication Syndromes 1 1p36 microdeletion Syndrome 31 Jacobsen Syndrome 2 Van der Woude Syndrome I (VWS) 32 1q41-q42 microdeletion Syndrome 3 12q14 microdeletion Syndrome 33 14q11-q22 deletion Syndrome 4 Feingold Syndrome I 34 Dandy-Walker Syndrome (DWS) 5 Split-Hand/Foot Malformation type 5 (SHFM5) 35 Angelman Syndrome/Prader-Willi Syndrome 6 Glass Syndrome 36 Deafness-infertility Syndrome 7 Holoprosencephaly type 6 (HPE6) 37 15q26 overgrowth Syndrome Microphthalmia type 6 Syndrome, pituitary 8 38 Diaphragmatic hernia, congenital (HCD/DIH1) hypoplasia 9 Rieger Syndrome type 1 (RIEG1) 39 5q21.1-q31.2 deletion Syndrome 10 Cri du Chat (5p deletion) Syndrome 40 16p11.2-p12.2 microdeletion Syndrome 11 Cornelia de Lange Syndrome I (CDLS) 41 16p11.2-p12.2 microduplication Syndrome Potocki-Lupski Syndrome (17p11.2 duplication 12 Alpha Thalassemia, Mental Retardation Syndrome 42 Syndrome) 13 SIM1 43 Smith-Magenis Syndrome 14 Saethre-Chotzen Syndrome (SCS) 44 17q21.31 deletion Syndrome 15 8p23.1 duplication Syndrome 45 17q21.31 duplication Syndrome 16 8p23.1 deletion Syndrome 46 Holoprosencephaly type 4 (HPE4) 17 Trichorhinophalangeal type I Syndrome 47 Chromosome 18p deletion Syndrome 18 Branchlootorenal dysplasia Syndrome I 48 Duchenne/Becker mascular dystrophy (DMD/BMD) (BOR)/Melnick-Frazer Syndrome 19 Distal Arthrogryposis type 2B (DA2B) 49 Chromosome 18q deletion Syndrome 20 Langer-Giedion Syndrome (LGS) 50 Holoprosencephaly type 1 (HPE1) 21 Monosomy 9p Syndrome 51 Cat-eye Syndrome (CES) 22 DiGeorge type 2 Syndrome (DGS2) 52 Microphthalmia with linear skin defects 23 Split-hand/foot malformation type 3 (SHFM3) 53 Orofaciodigital Syndrome Chromosome 10q22.3-q23.31 microdeletion 24 54 Dyggve-Melchior-Clausen Syndrome (DMC) Syndrome 25 Bannayan-Riley-Ruvalcaba Syndrome (BRRS) 55 Xp11.22-p11.23 microduplication Syndrome 26 Cowden Syndrome (CD) 56 Aniridia II & WAGR Syndrome 27 Chromosome 10q deletion Syndrome 57 Leukodystrophy with 11q14.2-q14.3 28 Androgen insensitivity Syndrome (AIS) 58 X-linked lymphoproliferative Syndrome (XLP) 29 Wilms tumor 1 (WT1) 59 Panhypopituitarism, X-linked 30 11q11-q13.3 duplication Syndrome 60 Mental retardation X-linked growth horm. Def (MRGH) Genomics For Life Page 1 of 1 Toll Free: 1800 445 433 Email: [email protected] Laboratory Director This laboratory is accredited under the accreditation scheme of the National Fax: 07 3054 4363 Dr. Glenn Francis Association of Testing Authorities Australia and The Royal College of Pathologists Address: Unit 1, 49 Butterfield St, Herston, Ph: 1800 445 433 of Australasia. This document shall not be reproduced except in full. QLD, 4006, Australia .

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TARGETED GENE PANELS and REFERENCE SEQUENCE (Refseq) TRANSCRIPTS by PHENOTYPE
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