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Genetics test: Paediatric disorders

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Test name
1p36 Deletion Syndrome – karyotype + FISH
21-Hydroxylase Deficiency (Congenital Adrenal Hyperplasia)
22q11 & 10p14 deletion (Di George Syndrome) – BOBs (5 days) + karyotype (15 days)
22q11 & 10p14 deletion (Di George Syndrome) – BOBs only
Achromatopsia NGS Panel – full gene sequencing
Aicardi-Goutières Syndrome NGS Panel – full gene sequencing
Alagille Syndrome NGS Panel – full sequencing JAG1 + NOTCH2 genes
Alport Syndrome NGS Panel – full sequencing with deletions and duplications
Angelman Syndrome (Primary Screen) – methylation PCR
Angelman/Rett Syndromes NGS Panel – full gene sequencing
Aniridia, Isolated – PAX6 gene sequencing + deletions/duplications
Anophthalmia/Microphthalmia/Coloboma NGS Panel – full gene sequencing
Apert Syndrome – common FGFR2 variants
Array CGH (Comparative Genomic Hybridisation)
Bardet-Biedl Syndrome NGS Panel – full gene sequencing
Batten Disease (Neuronal Ceroid Lipofuscinosis) NGS Panel – full gene sequencing
Beckwith-Wiedemann Syndrome – methylation studies on 11p15 imprinting domains KvDMR + H19
Blood PCR for Chromosome 13, 18, 21 and sex chromosomes
CAKUT (Congenital Anomalies of Kidney & Urinary Tract) NGS Panel – full gene sequencing
Cancer, Comprehensive NGS Panel – full gene sequencing + deletions/duplications
Cardio-Facio-Cutaneous/Noonan/LEOPARD/Costello Syndromes NGS Panel – full gene sequencing
CHARGE Syndrome – CHD7 gene sequencing
Comparative Genomic Hybridisation (Array CGH)
Cornelia de Lange Syndrome NGS Panel – full gene sequencing
Costello/Noonan/LEOPARD/Cardio-Facio-Cutaneous Syndromes NGS Panel – full gene sequencing
Craniosynostosis NGS Panel
Cri du Chat Syndrome – BOBs (5 days) + karyotype (15 days)
Cri du Chat Syndrome – BOBs only
CVS PCR for common aneuploidies (2 days) + culture (10-15 days)
CVSBOBs – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)
CVSBOBs only – rapid aneuploidy diagnosis for all chromosomes + common microdeletion syndromes
Cystic Fibrosis (139 common variants) – reflex to Poly T when required
DiGeorge Syndrome (22q11 & 10p14 deletion) – BOBs (5 days) + karyotype (15 days)
DiGeorge Syndrome (22q11 & 10p14) – BOBs only
Fatty Acid Oxidation Deficiency NGS Panel – full gene sequencing
Fragile X Syndrome screen – FMR1 repeat analysis PCR
Gaucher Disease full gene sequencing
Glycogen storage disease type 2 (Pompe) variant analysis
Hereditary Neuropathy with Liability to Pressure Palsy – PMP22 deletion analysis
Hirschprung Disease NGS Panel – full sequencing with deletions and duplications
Intellectual Disability NGS Panel – full gene sequencing + deletions/duplications
Krabbe Disease – GALC sequencing + 502T/del common deletion
Langer-Giedion Syndrome – BOBs (5 days) + karyotype (15 days)
Langer-Giedion Syndrome – BOBs only
Leber’s Congenital Amaurosis NGS Panel – full gene sequencing
Leber’s Hereditary Optic Neuropathy – m.3460G>A + m.11778G>A + m.14484T>C common variants
Leigh and Leigh Like Syndrome NGS Panel – full gene sequencing + deletions/duplications
LEOPARD/Noonan/Cardio-Facio-Cutaneous/Costello Syndromes NGS Panel – full gene sequencing
Lissencephaly NGS Panel – full gene sequencing
Lowe (Oculocerebrorenal) Syndrome – OCRL sequencing
Lysosomal Storage Disorders NGS Panel – full gene sequencing NEW
Maturity-Onset Diabetes of the Young (MODY) Diabetes
Meckel-Gruber/Joubert Syndrome NGS Panel – full gene sequencing
Medium-Chain Acyl-CoA Dehydrogenase Deficiency – ACADM sequencing
Microdeletion (common) Syndromes – BOBs only
Miller-Dieker Syndrome – BOBs (5 days) + karyotype (15 days)
Miller-Dieker Syndrome – BOBs only
Mitochondrial genome – full mitochondrial DNA sequencing + deletions
Mitochondrial genome sequencing
Mucopolysaccharidosis NGS Panel – full gene sequencing
Noonan Syndrome Prenatal Screening – PTPN11 exons 3 & 8 only
Noonan/LEOPARD/Cardio-Facio-Cutaneous/Costello Syndromes NGS Panel – full gene sequencing
Nystagmus, X-linked Infantile – FRMD7 gene sequencing
Oculopharyngeal Muscular Dystrophy – PABPN1 repeat analysis
Optic Atrophy NGS Panel – full sequencing OPA1 + OPA3 genes
Osteogenesis Imperfecta NGS Panel – full gene sequencing
Pelizaeus-Merzbacher Disease – PLP1 sequencing + deletions/duplications
Phelan-McDermid Syndrome – karyotype + FISH
POLG-Related Disorders – full POLG sequencing + deletions and duplications
Postnatal array CGH
Prader-Willi Syndrome (Primary Screen) – methylation PCR
Primary Ciliary Dyskinesia (PCD) NGS Panel – full gene sequencing
PTEN-related disorders (including Bannayan-Riley-Ruvalcaba, Cowden & Proteus Syndromes) – sequencing + deletions/duplications
Retinoblastoma – RB1 sequencing + deletions/duplications
Rett Syndrome (MECP2 gene only) – full sequencing + deletions/duplications
Rett/Angelman Syndromes NGS Panel – full gene sequencing
Short Stature – SHOX variant screening + deletions/duplications
Short-Chain Acyl-CoA Dehydrogenase Deficiency – ACADS sequencing
Silver-Russell Syndrome – methylation studies on 11p15 imprinting domains KvDMR + H19
Skeletal Dysplasia NGS Panel – full gene sequencing
Smith-Lemli-Opitz Syndrome – DHCR7 sequencing
Smith-Magenis Syndrome – BOBs (5 days) + karyotype (15 days)
Smith-Magenis Syndrome – BoBs only
Sotos Syndrome (Cerebral Gigantism) – NSD1 sequencing + deletions/duplications
Spastic Paraplegia NGS Panel – full gene sequencing + deletions/duplications + mitochondrial DNA
Spinal Bulbar Muscular Atrophy (Kennedy Disease) – AR repeat analysis
Spinal Muscular Atrophy – SMN1 deletions/duplications
Tay Sachs Screen – common variants
Treacher-Collins Syndrome NGS Panel – full sequencing POLR1C + POLR1D + TCOF1
Tuberous Sclerosis – full TSC1 + TSC2 gene sequencing
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency – ACADVL sequencing
Wolf-Hirschhorn Syndrome – BOBs (5 days) + karyotype (15 days)
Wolf-Hirschhorn Syndrome – BOBs only
Zellweger Syndrome/Peroxisomal Disorders NGS Panel – full gene sequencing

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