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- 1p36 Deletion Syndrome – karyoty...
 - 21-Hydroxylase Deficiency (Conge...
 - 22q11 & 10p14 deletion (Di Georg...
 - Achromatopsia NGS Panel – full g...
 - Aicardi-Goutiares Syndrome NGS P...
 - Alagille Syndrome NGS Panel – fu...
 - ALL Genome profile
 - Alpha Fetoprotein on Amniotic fluid
 - Alpha Thalassaemia – multiplex P...
 - Alpha Thalassaemia – multiplex P...
 - Alpha-1 Antitrypsin Genotype – P...
 - Alport Syndrome NGS Panel – full...
 - AML Genome profile
 - AML/ALL Molecular MRD – NPM1, PM...
 - Amniocentesis culture (karyotype...
 - Amniocentesis – rapid PCR diagno...
 - AmnioPCR only – rapid common ane...
 - Amylotrophic Lateral Sclerosis (...
 - Androgen Insensitivity – AR gene...
 - Aneurysm/Connective Tissue Disor...
 - Angelman Syndrome (Primary Scree...
 - Angelman/Rett Syndromes NGS Pane...
 - Aniridia, Isolated – PAX6 gene s...
 - Anophthalmia/Microphthalmia/Colo...
 - Thrombophilia due to antithrombi...
 - Aortopathy/Marfan Syndrome and T...
 - Apert Syndrome – common FGFR2 va...
 - Array CGH (Comparative Genomic H...
 - Ashkenazi Breast Cancer Screen –...
 - Ashkenazi Jewish Carrier Screen
 - Ataxia NGS Panel – full gene seq...
 - Autoinflammation/Periodic Fever...
 - Azoospermia – karyotype + cystic...
 - B cell clonality assay (IgH and...
 - Bardet-Biedl Syndrome NGS Panel...
 - Batten Disease (Neuronal Ceroid...
 - BCR-ABL diagnostic assay
 - BCR/ABL Quantitative – fusion ge...
 - Becker/Duchenne Muscular Dystro...
 - Beckwith-Wiedemann Syndrome – me...
 - Behcet’s Disease – HLA Tissue Ty...
 - Beta Thalassaemia – beta-globin...
 - Beta Thalassaemia – beta-globin...
 - Inherited bleeding and platelet...
 - Blood PCR for Chromosome 13, 18,...
 - Breast Cancer Ashkenazi Screen –...
 - Breast Cancer NGS Panel – full g...
 - Breast Cancer – BRCA1 + BRCA2 on...
 - Brugada Syndromea/Long-QT NGS Pa...
 - C-KIT D816V variant by PCR for M...
 - CADASIL – NOTCH3 gene sequencing
 - CAKUT (Congenital Anomalies of K...
 - Cancer, Comprehensive NGS Panel...
 - Cardio-Facio-Cutaneous/Noonan/LE...
 - Cardiomyopathy, Dilated NGS Pane...
 - Cardiomyopathy, Hypertrophic NGS...
 - Cardiovascular, Comprehensive NG...
 - Carrier Screen (Ashkenazi Jewish)
 - Carrier Screen (Ashkenazi Jewish...
 - Carrier Screen (Pan-Ethnic)
 - Carrier Screen (Pan-Ethnic) – Pa...
 - Charcot-Marie-Tooth Syndrome NGS...
 - Charcot-Marie-Tooth Type 1A – PM...
 - CHARGE Syndrome – CHD7 gene sequ...
 - Cholestasis, Intrahepatic NGS Pa...
 - Chromosome Analysis (Amniocentes...
 - Chromosome Analysis (Amniocentes...
 - Chromosome Analysis (Blood)
 - Chromosome Analysis (Chorionic V...
 - Chromosome Analysis (Chorionic V...
 - Chromosome Analysis (Products of...
 - Chromosome Analysis (Solid Tissue)
 - Chromosome banding karyotype
 - Chromosome Y Deletion – AZFa, AZ...
 - CLL Genome profile
 - CLL Prognostification FISH screen
 - Coeliac Disease – HLA DQ2/DQ8 ge...
 - Colorectal Cancer NGS Panel – fu...
 - Comparative Genomic Hybridisatio...
 - Comprehensive Neuropathy NGS Pan...
 - Congenital Absence of Vas Defere...
 - Connective Tissue Disorders/Ehle...
 - Cornelia de Lange Syndrome NGS P...
 - Costello/Noonan/LEOPARD/Cardio-F...
 - Craniosynostosis NGS Panel
 - Cri du Chat Syndrome – CGH
 - CVS PCR for common aneuploidies...
 - Cystic Fibrosis (139 common vari...
 - Deafness NGS Panel – full gene s...
 - Diabetes Panel – Obesity NGS
 - DiGeorge Syndrome (22q11 & 10p14...
 - Dihydropyrimidine Dehydrogenase...
 - Dilated Cardiomyopathy NGS Panel...
 - DNA Extraction & Storage – 3 yea...
 - DNA Identity Profile – 15 STR ma...
 - Duchenne Muscular Dystrophy – de...
 - Duchenne Muscular Dystrophy – fu...
 - DVT/Pre-travel Screen
 - Ehlers-Danlos Syndrome/Aneurysm/...
 - Endometrial Cancer NGS Panel – f...
 - Epidermolysis Bullosa NGS Panel...
 - Epilepsy, Adolescent/Adult Onset...
 - Epilepsy, Comprehensive NGS Pane...
 - Fabry Disease, X-linked – GLA ge...
 - Facioscapulohumeral Muscular Dys...
 - Factor II Prothrombin – G20210A...
 - Factor V Leiden – G1691A variant
 - Factor VIII (F8) Severe Haemophi...
 - Familial Adenomatous Polyposis (...
 - Familial Exudative Vitreoretinop...
 - Familial Hypercholesterolaemia N...
 - Familial Hypocalciuric Hypercalc...
 - Familial Medullary Thyroid Carci...
 - Fatty Acid Oxidation Disorders N...
 - FLT3-ITD and FLT3-TKD screening...
 - Fragile X Syndrome screen – FMR1...
 - Friedreich Ataxia – frataxin gen...
 - Gaucher disease – full gene sequ...
 - Genetic Reproductive Profile (Male)
 - Gilbert Syndrome – common UGT1A1...
 - Glucose-6-Phosphate Dehydrogenas...
 - Glycogen storage disease type 2...
 - Haemochromatosis – HFE common va...
 - Haemoglobin variants (alpha and...
 - Haemophilia A (Severe) – Factor...
 - Haemophilia A CVS Variant Analys...
 - Haemophilia B CVS Variant Analys...
 - Hearing Loss NGS Panel – full ge...
 - Hereditary Cancer NGS Panel, Com...
 - Hereditary Colon Cancer (Lynch S...
 - Hereditary Neuropathy with Liabi...
 - Hereditary Spastic Paraplegia NG...
 - HFE gene (Haemochromatosis) – co...
 - Hirschprung Disease NGS Panel –...
 - HLA Tissue Typing A
 - HLA Tissue Typing A+B
 - HLA Tissue Typing A+B+C (Class I)
 - HLA Tissue Typing A/B/C/DRB1/3/4...
 - HLA Tissue Typing A/B/DRB1/3/4/5
 - HLA Tissue Typing A/B/DRB1/3/4/5...
 - HLA Tissue Typing B
 - HLA Tissue Typing B*27 only
 - HLA Tissue Typing B*51 (Behcet’s...
 - HLA Tissue Typing B*57:01 high r...
 - HLA Tissue Typing C
 - HLA Tissue Typing Coeliac Diseas...
 - HLA Tissue Typing DRB1/3/4/5
 - HLA Tissue Typing DRB1/3/4/5/DQB...
 - HLA Tissue Typing Narcolepsy – D...
 - HPFH and δβthalassaemia – Gap PC...
 - Huntington Disease – HD gene rep...
 - Hyperinsulinism NGS Panel – full...
 - Hyperparathyroidism – CASR seque...
 - Identity Profile (DNA) – 15 STR...
 - IDH1/2 screening assay
 - IgVH mutation analysis for CLL
 - Intellectual Disability NGS Pane...
 - Iron Overload Profile
 - Joubert/Meckel-Gruber Syndrome N...
 - Kallmann Syndrome NGS Panel – fu...
 - Kennedy Disease (Spinal Bulbar M...
 - Kidney/Urinary Tract Cancer NGS...
 - Krabbe Disease – GALC sequencing...
 - Lactose Intolerance Gene
 - Langer-Giedion Syndrome – CGH
 - Leber’s Congenital Amaurosis NGS...
 - Leber’s Hereditary Optic Neuropa...
 - Leigh and Leigh Like Syndrome NG...
 - LEOPARD/Noonan/Cardio-Facio-Cuta...
 - Leukaemia (Rapid Acute) DNA and...
 - Leukaemia Fusion Gene Screening...
 - Leukaemia/Lymphoma RNA Sequencin...
 - Li-Fraumeni Syndrome (p53-relate...
 - Limb-Girdle Muscular Dystrophy (...
 - Lissencephaly NGS Panel – full g...
 - Loeys-Dietz Syndrome/Marfan Synd...
 - Long-QT Syndrome / Brugada Syndr...
 - Lowe (Oculocerebrorenal) Syndrom...
 - Lung Disorders NGS Panel – full...
 - Lynch Syndrome (HNPCC) NGS Panel...
 - Lysosomal Storage Disorders NGS...
 - Male Genetic Reproductive Profile
 - Marfan Syndrome and Thoracic Aor...
 - Marfan Syndrome – FBN1 sequencin...
 - Maturity-Onset Diabetes of the Y...
 - MDP Genome profile
 - MDS Genome profile
 - Meckel-Gruber/Joubert Syndrome N...
 - Medium-Chain Acyl-CoA Dehydrogen...
 - Melanoma Comprehensive Cancer NG...
 - Microdeletion (common) Syndromes...
 - Microphthalmia/Anophthalmia /Col...
 - Miller-Dieker Syndrome – CGH
 - Mitochondrial genome sequencing
 - Mitochondrial genome – full mito...
 - Molecular Karyotyping
 - Motor Neurone Disease (Amylotrop...
 - MTHFR – common C677T + A1298C va...
 - Mucopolysaccharidosis NGS Panel...
 - Multiple Endocrine Neoplasia Typ...
 - Multiple Endocrine Neoplasia Typ...
 - Myeloid Gene Panel
 - Myeloma FISH high risk markers s...
 - Myeloma Genome profile
 - Myeloproliferative Neoplasm NGS...
 - Myotonic Dystrophy Type 1 – DMPK...
 - Myotonic Dystrophy Type 2 (PROMM...
 - Narcolepsy (HLA DQB1*06:02)
 - Nephrotic Syndrome, Steroid-Resi...
 - Nervous System/Brain Cancer NGS...
 - Neurofibromatosis Type 1 – NF1 +...
 - Neurofibromatosis Type 2 (Bilate...
 - Neuronal Ceroid Lipofuscinosis (...
 - Next-generation sequencing
 - Non-Invasive Prenatal Testing –...
 - Noonan Syndrome Prenatal Screeni...
 - Noonan/LEOPARD/Cardio-Facio-Cuta...
 - Nystagmus, X-linked Infantile –...
 - Oculopharyngeal Muscular Dystrop...
 - Optic Atrophy NGS Panel – full s...
 - Osteogenesis Imperfecta NGS Pane...
 - Ovarian Cancer NGS Panel – full...
 - p53-related cancer predispositio...
 - Pancreatic Cancer NGS Panel – fu...
 - Paraganglioma/Pheochromocytoma N...
 - Paternity Testing (postnatal and...
 - Pelizaeus-Merzbacher Disease – P...
 - Pendred Syndrome – SLC26A4 gene...
 - Periodic Fever/Autoinflammation...
 - Peutz-Jegher Syndrome – STK11 se...
 - Phelan-McDermid Syndrome – karyo...
 - Pheochromocytoma/Paraganglioma N...
 - Pigmentation/Oculocutaneous Albi...
 - POLG-Related Disorders – full PO...
 - Polycystic Kidney/NGS Panel – fu...
 - Pontocerebellar Hypoplasia NGS P...
 - Postnatal array CGH
 - Prader-Willi Syndrome (Primary S...
 - Pre-Travel Screen (DVT)
 - Prenatal array CGH
 - Primary Ciliary Dyskinesia (PCD)...
 - Primary Hyperoxaluria Panel – fu...
 - Products of Conception (Culture)
 - Prostate Cancer NGS Panel – full...
 - Thrombophilia due to protein C d...
 - PTEN-related disorders (includin...
 - QF-PCR rapid common aneuploidy s...
 - Recurrent Miscarriage Profile (f...
 - Renal Cysts and Diabetes (RCAD)...
 - Renal/Urinary Tract Cancer NGS P...
 - Retinal Detachment NGS Panel – f...
 - Retinal Disorders NGS Panel – fu...
 - Retinoblastoma – RB1 sequencing...
 - Rett Syndrome (MECP2 gene only)...
 - Rett/Angelman Syndromes NGS Pane...
 - Short Stature – SHOX variant scr...
 - Short-Chain Acyl-CoA Dehydrogena...
 - Silver-Russell Syndrome – methyl...
 - Single FISH test as per request
 - Skeletal Dysplasia NGS Panel – f...
 - Smith-Lemli-Opitz Syndrome – DHC...
 - Smith-Magenis Syndrome – CGH
 - Sotos Syndrome (Cerebral Giganti...
 - Spastic Paraplegia NGS Panel – f...
 - Spinal Bulbar Muscular Atrophy (...
 - Spinal Muscular Atrophy – SMN1 d...
 - Spinocerebellar Ataxia NGS Panel...
 - Spinocerebellar Ataxia – multipl...
 - SRY (Sex-determining Region Y)
 - Systemic mastocystosis – C-Kit c...
 - T cell clonality assay (TCR beta...
 - Tay Sachs Screen – common variants
 - Thrombophilia with a likely mono...
 - Thrombotic Risk Profile
 - Thyroid Cancer NGS Panel – full...
 - Torsion Dystonia (DYT1) – TOR1A...
 - Treacher-Collins Syndrome NGS Pa...
 - Tuberous Sclerosis – full TSC1 +...
 - Urinary Tract/Renal Cancer NGS P...
 - Usher Syndrome NGS Panel – full...
 - Very Long-Chain Acyl-CoA Dehydro...
 - Von Hippel-Lindau Syndrome – VHL...
 - Wolf-Hirschhorn Syndrome – CGH
 - Xmn and gamma gene – gamma globi...
 - Y chromosome microdeletions – AZ...
 - Zellweger Syndrome/Peroxisomal D...
 - Ziwig Endotest®
 - Zygosity testing – comparative D...
 - Chromosome Analysis (Stem Cells)...
 - Cytochrome P450 2C19 (CYP2C19) g...
 
 
Apolipoprotein E genotype – E2, E3, E4
Sample Reqs
A
Turnaround
14 days
Special instructions
Clinical history must be provided.
Sample type guide
A
Lavender Vacutainer, EDTA anticoagulant, 4ml/10ml(10ml EDTA tubes are used for specific PCR assays)
Additional information
- How to order a test
 - HSL Genetics specimens
 - HSL Genetics specialties
 - HSL Genetics request procedures
 - Guidance on specimen collection
 - Specimen transport
 - Sample rejection criteria
 - Request Forms
 
Last-updated: 13/03/23