Clinical Resources

Clinical Resources

Clinical Genetic Test Menu

Test Code
Test Name
Test Category
Test Subcategory

CAE1001

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel

Gene Panels

Cardiology

CAE1002

Brugada Syndrome - Core Panel

Gene Panels

Cardiology

CAE1003

Brugada Syndrome -Expanded Panel

Gene Panels

Cardiology

CAE1004

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel

Gene Panels

Cardiology

CAE1005

Comprehensive Cardiac Arrhythmias Panel

Gene Panels

Cardiology

CAE1006

*Comprehensive Cardiomyopathy Panel

Gene Panels

Cardiology

CAE1007

*Dilated Cardiomyopathy (DCM) and Conduction Defects - Core Panel

Gene Panels

Cardiology

CAE1008

*Dilated Cardiomyopathy (DCM) and Conduction Defects - Expanded Panel

Gene Panels

Cardiology

CAE1009

*Dyslipidaemia Panel (includes Familial Hypercholesterolaemia)

Gene Panels

Cardiology

CAE1010

*Hypertrophic Cardiomyopathy (HCM) - Core Panel

Gene Panels

Cardiology

CAE1010b

Transthyretin Amyloidosis (TTR Single Gene Test)

Gene Panels

Cardiology

CAE1011

*Hypertrophic Cardiomyopathy (HCM) - Expanded Panel

Gene Panels

Cardiology

CAE1012

Left Ventricular Noncompaction Cardiomyopathy (LVNC) Panel

Gene Panels

Cardiology

CAE1013

Long QT Syndrome (LQTS) - Core Panel

Gene Panels

Cardiology

CAE1014

Long QT Syndrome (LQTS) - Expanded Panel

Gene Panels

Cardiology

CAE1015

Short QT Syndrome (SQTS) Panel

Gene Panels

Cardiology

CAE1016

Aortopathy Panel

Gene Panels

Cardiology

HCE1001

Hereditary Breast Cancer Panel

Gene Panels

Hereditary Cancer

HCE1001b

Hereditary Cancer - BRCA1/BRCA2

Gene Panels

Hereditary Cancer

HCE1002

Hereditary Breast and Gynaecological Cancer Panel

Gene Panels

Hereditary Cancer

HCE1003

Hereditary Colorectal Cancer and Polyposis Panel

Gene Panels

Hereditary Cancer

HCE1003b

Hereditary Cancer - Lynch Syndrome Panel

Gene Panels

Hereditary Cancer

HCE1004

Comprehensive Hereditary Cancer Panel

Gene Panels

Hereditary Cancer

HCE1005

Hereditary Cancer High Risk Panel

Gene Panels

Hereditary Cancer

HCE1006

Hereditary Endocrine Cancer Panel

Gene Panels

Hereditary Cancer

HCE1007

Hereditary Gastrointestinal Cancer Panel

Gene Panels

Hereditary Cancer

HCE1008

Hereditary Lung Cancer Panel

Gene Panels

Hereditary Cancer

HCE1009

Hereditary Melanoma and Skin Cancer Panel

Gene Panels

Hereditary Cancer

HCE1010

Hereditary Pancreatic Cancer Panel

Gene Panels

Hereditary Cancer

HCE1011

Hereditary Prostate Cancer Panel

Gene Panels

Hereditary Cancer

HCE1012

Hereditary Renal Cancer Panel

Gene Panels

Hereditary Cancer

HCE1013

Hereditary Paraganglioma Pheochromocytoma Panel

Gene Panels

Hereditary Cancer

HCE1014

Neurofibromatosis Panel

Gene Panels

Hereditary Cancer

NEE1001

Comprehensive Nephrology Panel

Gene Panels

Nephrology

NEE1002

Alport/Haematuria Panel

Gene Panels

Nephrology

NEE1003

Atypical Haemolytic Uraemic Syndrome Panel

Gene Panels

Nephrology

NEE1004

Bartter Syndrome Panel

Gene Panels

Nephrology

NEE1005

Cystic Kidney Disease Panel

Gene Panels

Nephrology

NEE1006

Diabetes Insipidus, Nephrogenic Panel

Gene Panels

Nephrology

NEE1007

Extreme Early-onset Hypertension Panel

Gene Panels

Nephrology

NEE1008

Hereditary Systemic Amyloidosis Panel

Gene Panels

Nephrology

NEE1009

Membranoproliferative Glomerulonephritis including C3 Glomerulopathy Panel

Gene Panels

Nephrology

NEE1010

Nephrocalcinosis or Nephrolithiasis Panel

Gene Panels

Nephrology

NEE1011

Proteinuric Renal Disease Panel

Gene Panels

Nephrology

NEE1012

Pseudohypoaldosteronism Panel

Gene Panels

Nephrology

NEE1013

Rare Multisystem Ciliopathy Panel

Gene Panels

Nephrology

NEE1014

Renal Malformations (CAKUT) Panel

Gene Panels

Nephrology

NEE1015

Renal Super Panel Broad

Gene Panels

Nephrology

NEE1016

Renal Tubulopathies Panel

Gene Panels

Nephrology

NEE1017

Tubulointerstitial Kidney Disease Panel

Gene Panels

Nephrology

NEE1018

Unexplained Kidney Failure in Young People

Gene Panels

Nephrology

NEE1019

Unexplained Young-onset End-stage Renal Disease Panel

Gene Panels

Nephrology

NUE1001

Comprehensive Neurology Panel

Gene Panels

Neurology

NUE1002

Acute Rhabdomyolysis Panel

Gene Panels

Neurology

NUE1003

Adult-onset Dystonia, Chorea or related movement disorder Panel

Gene Panels

Neurology

NUE1004

Adult-onset Hereditary Spastic Paraplegia (HSP) Panel

Gene Panels

Neurology

NUE1005

Adult Onset Leukodystrophy Panel

Gene Panels

Neurology

NUE1006

Adult-onset Neurodegenerative Disorder Panel

Gene Panels

Neurology

NUE1007

Arthrogryposis Panel

Gene Panels

Neurology

NUE1008

Cerebral Malformation Panel

Gene Panels

Neurology

NUE1009

Cerebral Vascular Malformations Panel

Gene Panels

Neurology

NUE1010

Comprehensive Epilepsy Panel

Gene Panels

Neurology

NUE1011

Congenital Myaesthenic Syndromes Panel

Gene Panels

Neurology

NUE1012

Congenital Myopathy Panel

Gene Panels

Neurology

NUE1013

Congenital Muscular Dystrophy Panel

Gene Panels

Neurology

NUE1014

Dementia Panel

Gene Panels

Neurology

NUE1015

Childhood Onset Dystonia, Chorea or Related Movement Disorder Panel

Gene Panels

Neurology

NUE1016

Childhood Onset Hereditary Spastic Paraplegia Panel

Gene Panels

Neurology

NUE1017

Childhood Onset Leukodystrophy Panel

Gene Panels

Neurology

NUE1018

Early-onset or Syndromic Epilepsy Panel

Gene Panels

Neurology

NUE1019

Hereditary Ataxia and Cerebellar Anomalies - Childhood Onset Panel

Gene Panels

Neurology

NUE1020

Hereditary Ataxia and Cerebellar Anomalies Panel - Onset in Adulthood

Gene Panels

Neurology

NUE1021

Hereditary Neuropathy or Pain Disorder Panel

Gene Panels

Neurology

NUE1022

Holoprosencephaly Panel

Gene Panels

Neurology

NUE1023

Intellectual Disability Panel

Gene Panels

Neurology

NUE1023

Hydrocephalus Panel

Gene Panels

Neurology

NUE1025

Limb Girdle Muscular Dystrophies, Myofibrillar Myopathies and Distal Myopathies Panel

Gene Panels

Neurology

NUE1026

Macrocephaly Panel

Gene Panels

Neurology

NUE1027

Malignant Hyperthermia Panel

Gene Panels

Neurology

NUE1028

Paroxysmal Central Nervous System Disorders Panel

Gene Panels

Neurology

NUE1029

Rare Neuromuscular Disorders Panel

Gene Panels

Neurology

NUE1030

Severe Microcephaly Panel

Gene Panels

Neurology

NUE1031

Skeletal Muscle Channelopathy Panel

Gene Panels

Neurology

NUE1032

Tuberous Sclerosis Panel

Gene Panels

Neurology

OPE1001

Comprehensive Ophthalmology Panel

Gene Panels

Ophthalmology

OPE1002

Albinism or Congenital Nystagmus Panel

Gene Panels

Ophthalmology

OPE1003

Bardet Biedl Syndrome Panel

Gene Panels

Ophthalmology

OPE1004

Bilateral Congenital or Childhood Onset Cataracts Panel

Gene Panels

Ophthalmology

OPE1005

Blepharophimosis Ptosis and Epicanthus Inversus Panel

Gene Panels

Ophthalmology

OPE1006

Congenital Fibrosis of the extraocular muscles Panel

Gene Panels

Ophthalmology

OPE1007

Corneal Dystrophies Panel

Gene Panels

Ophthalmology

OPE1008

Optic Neuropathy Panel

Gene Panels

Ophthalmology

OPE1009

Pseudoxanthoma Elasticum Panel

Gene Panels

Ophthalmology

OPE1010

Retinal Disorders Panel

Gene Panels

Ophthalmology

OPE1011

Sporadic Aniridia Panel

Gene Panels

Ophthalmology

OPE1012

Stickler Syndrome Panel

Gene Panels

Ophthalmology

OPE1013

Structural Eye Disease Panel

Gene Panels

Ophthalmology

SG1001

DPYD Genotyping

Single Gene Tests

Pharmacogenomic

SG1002 (2 variant)

HFE Genotyping

Single Gene Tests

Disease Diagnosis

SG1004

TPMT Genotyping

Single Gene Tests

Pharmacogenomic

SG1005

CYP2C19 Genotyping

Single Gene Tests

Pharmacogenomic

SG1006

TTR Sequencing

Single Gene Tests

Disease Diagnosis

NIP1001

PrenatalSEQ

Screening Tests

Non-Invasive Prenatal Screening

*Panel includes the mitochondrial genome

Clinical Portal

Genseq’s clinical portal allows you, the Healthcare Practitioner to

  • Browse test menus
  • Order tests for your patients
  • Invite ordering assistants to order tests on your behalf
  • Download consent forms
  • Track progress on the test you have ordered
  • Receive reports

Click here to request an account.

Ordering A Test

Genseq’s clinical genetic tests may be ordered by qualified healthcare professionals only. All tests must be ordered using the clinical portal.

Please ensure you have obtained written informed consent from the patient for the test to be performed before submitting an order on the portal. Consent forms can be found here or on the portal.

To order a test:

  1. Login to the portal
  2. Select the test you would like to order
  3. Fill in the necessary details on the test requisition
  4. Confirm that you have received written informed consent from the patient
  5. Submit the order
  6. Collect the sample from the patient (click here for sample requirements, labelling, and shipping)
  7. Ship the sample to the Genseq laboratory alongside the signed consent form
  8. Receive the report via the portal

Ordering A Sample Collection Kit

Genseq supplies sample collection kits for PrenatalSEQ. Contact us to request a sample collection kit.

Please note Sample Collection kits may be ordered by qualified healthcare practitioners only. If you are a patient looking to avail of the PrenatalSEQ service, please contact your healthcare provider who may order a sample collection kit on your behalf.

Clinical Support

At Genseq, we strive to provide reports that are clear and comprehensive. However, we understand that genetic reports are inherently complex in nature and recognise the importance of having access to dedicated professionals to answer any queries you may have. For this reason, we offer a three tier support system to our clinical customers at no extra cost. This support system will give you the opportunity to discuss your query with a member of our Clinical Support team:

Tier 1 Support

Send your question to support@genseqgroup.com. One of our experienced Clinical Scientists will address your query via email, within 1 working day.

Tier 2 Support

Escalation to a call with one of our Clinical Scientists.

Tier 3 Support

Escalation to a call with one of our Consultant Clinical Geneticists or our technical team, depending on the nature of the query.

General Support

We pride ourselves on our excellent customer service. Please do not hesitate to contact us should you have any questions, and a member of our team will be happy to assist you. 

The laboratory welcomes feedback from all clients and patients on any aspect of the services provided. Correspondence may be submitted via our contact us form. Where a complaint is received, this will be investigated thoroughly with feedback to the complainant in a timely manner.

View documents for Clinical Services

View sample requirements for
Clinical Services

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