-
- 1p36 Deletion Syndrome – karyoty...
- 21-Hydroxylase Deficiency (Conge...
- 22q11 & 10p14 deletion (Di Georg...
- 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...
- AmnioBOBs only – rapid aneuploid...
- Amniocentesis culture (karyotype...
- Amniocentesis – rapid BOBs aneup...
- 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...
- Apolipoprotein E genotype – E2,...
- 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 (Amniocentes...
- Chromosome Analysis (Blood)
- Chromosome Analysis (Chorionic V...
- Chromosome Analysis (Chorionic V...
- Chromosome Analysis (Chorionic V...
- Chromosome Analysis (Product of...
- 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 – BOBs (5 d...
- Cri du Chat Syndrome – BOBs only
- CVS PCR for common aneuploidies...
- CVSBOBs only – rapid aneuploidy...
- CVSBOBs – rapid BOBs aneuploidy...
- Cystic Fibrosis (139 common vari...
- Deafness NGS Panel – full gene s...
- Diabetes Panel – Obesity NGS
- DiGeorge Syndrome (22q11 & 10p14...
- 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...
- 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 – BOBs (...
- Langer-Giedion Syndrome – BOBs only
- 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 – BOBs (5...
- Miller-Dieker Syndrome – BOBs only
- 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
- Prenatal Diagnosis (BOBs + Culture)
- Primary Ciliary Dyskinesia (PCD)...
- Primary Hyperoxaluria Panel – fu...
- Product of Conception BOBs only...
- Product of Conception – rapid BO...
- 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 – BOBs (5...
- Smith-Magenis Syndrome – BoBs only
- 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 – BOBs...
- Wolf-Hirschhorn Syndrome – BOBs...
- 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...
Identity Profile (DNA) – 15 STR markers
Sample Reqs
A
Turnaround
10 days
Special instructions
Clinical history must be provided. Patient consent required. Consent Form can be found at the back of this guide.
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: 14/08/22