Accredited for compliance with NPAAC Standards and ISO 15189 Accreditation No.

20401

Part A: Genomic Testing Request Form

PATIENT DETAILS

MRN: Phone/ Mobile:

Surname: Address:

Given Name: DOB:

Gender: ☐ Female ☐ Male ☐ Unknown Email:

REQUESTING DOCTOR

Name: Provider Number:

Address: ☐ Email to:

Phone/ Mobile: ☐ Hard copy:

Signature:

COPY REPORT TO

Doctor: ☐ Email copy to:

Phone/ Mobile: ☐ Hard copy to:

TEST REQUESTED

☐ Whole Exome analysis

☐ Gene panel only analysis (tick box/es on page 2- clinical indications or attach a gene list) ☐ Proband only

☐ Gene panel analysis, with whole exome analysis if nothing clinically relevant found in the panel ☐ Family

☐ Re-analysis of Whole Exome, please specify reason for re-analysis under Clinical Information

Indicate ☐Proband ☐ Mother ☐ Father ☐ Other (please state relationship to proband):

If not the proband, please include the proband’s; Full Name: DOB:

SPECIMEN INFORMATION (Collector / Sender to complete)

Print Name: Signature: Date and time of collection:

EDTA Whole Blood (5-10mls for adults, 2-5mls for children) Number of tubes collected:

Extracted DNA (50-100ng/l, total volume ≥50l) Concentration: Elution Buffer: Total Volume:

Other sample types (i.e. buccal swab, saliva), details:

For ACT Pathology collection centres:

- Collect 1 x 5-10ml EDTA (adults) or 1x 2-5ml EDTA (children)
- Register test as “CCG Test”. Refer to Kestral ALT-9 for more information
For all other collection centres:
- Collect 1 x 5-10ml EDTA (adults) or 1x 2-5ml EDTA (children)
- Send samples to: Canberra Clinical Genomics, The Australian National University, Hugh Ennor Building, 117 Garran Rd, ACTON,
ACT, 2601.

For any issues and/ or enquires please contact us on (02) 5124 5630

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Laboratory hours: 8:30am – 4:30pm. Laboratory: (02) 6125 7756. Office: (02) 5124 5630. Email: CCG@act.gov.au COR76 v4.1
 Accredited for compliance with NPAAC Standards and ISO 15189 Accreditation No.
20401

CLINICAL INDICATIONS (Please tick relevant box/es)

Developmental / Congenital Respiratory

 Developmental Delay / Intellectual Disability  Cystic Fibrosis
 Dysmorphism/s  COPD / Non-CF bronchiectasis
 Floppy Infant  Restrictive Lung Disease
 IUGR and IGF abnormalities  Ciliary Dyskinesia / Laterality Disorder
 RASopathies  Surfactant Deficiency
 Paediatric Disorder – Specific or Syndromic  Other (specify next page)
 Other (specify next page) Renal
Neurological  Cystic Kidney Disease
 Ataxia / Movement / Tone Disorder  Haematuria / Proteinuria
 Hereditary Spastic Paraplegia  Glomerular Disease
 Autism  Tubulointerstitial Kidney Disease
 Brain Malformation  Renal Tubulopathies
 Inherited White Matter Disorder  Nephrocalcinosis or Nephrolithiasis
 Epilepsy  Renal Ciliopathies / Renal and Urinary tract
 Dysautonomia malformations
 Pain Syndrome  Unexplained End Stage Renal Disease
 Hereditary Neuropathy of PNS  Other (specify next page)
 Familial Dementia Other Organs
 Degenerative Brain Disorder  Polycystic Liver Disease
 Parkinson Disease  Liver disorder, other
 Retinal Disorder  Pancreatic disorder / Pancreatitis
 Eye Disorder, other  Other (specify next page)
 Deafness Metabolic
 Motor Neuron Disease  Inborn Error of Metabolism / Mitochondrial Disorder
 Other (specify next page)  Lysosomal Storage Disorder
Musculoskeletal  Peroxisomal Disorder
 Craniofacial Abnormalities  Iron Metabolism Disorder
 Connective Tissue Disorder  Other (specify next page)
 Muscular Dystrophy Gastrointestinal
 Rhabdomyolysis and Metabolic Muscle Disorders  Dysmotility
 Skeletal Disorder  Epithelial Barrier Disorder / Diarrhoeal disorder
 Arthrogryposis  GIT malformation/s
 Other (specify next page)  Other (specify next page)
Immunological Dermatological
 Inflammatory / Autoimmune Disorder  Epidermolysis Bullosa
 Primary Immune Deficiency  Autoimmune Skin Disorder
 Other (specify below)  Palmoplantar Keratodermas
Coagulation/Blood  Pigmentary Skin Disorder
 Bleeding disorder  Vascular Skin Disorder
 Thrombotic disorder  Other (specify next page)
 Haemoglobinopathy (Thalassaemia, Haemoglobin Cancer Susceptibility
Variant)  Breast & Ovarian Cancer
 Anaemia / Red Cell Disorder  Bowel Cancer / Lynch syndrome
 Other (specify next page)  Renal Cancer
Endocrine  Head & Neck
 Hypothalamic / Pituitary  Multiple Endocrine Tumour
 Calcium Homeostasis Disorder  Melanoma
 Diabetes  Multiple Tissues
 Severe early-onset obesity  Other (specify next page)
 Other (specify next page) Sexual Developmental
Cardiovascular  Primary Ovarian Insufficiency
 Cardiomyopathy  Other (specify below)
 Cardiac Arrhythmia / SCD Sudden Death
 Dyslipidaemia  Sudden Infant Death (SIDS)
 Vascular Abnormalities / Primary Lymphoedema  Sudden Unexplained Death
 Congenital Heart Defect
 Hypertension (Left sided / Pulmonary) For a specific gene panel please attach the gene list to the request
 Other (specify next page) form

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 Accredited for compliance with NPAAC Standards and ISO 15189 Accreditation No.
20401

DETAILED CLINICAL HISTORY / DIFFERENTIAL DIAGNOSIS

See over page for helpful hints

PREVIOUS GENETIC TESTING AND/ OR CLINICALLY RELEVANT RESULTS

Please include the test, laboratory and result

FAMILY HISTORY (Draw pedigree below or attach a copy)

See over page for helpful hints

Are family members available for testing: Mother ☐ Yes ☐ No Father ☐ Yes ☐ No Other ☐:
Reason for test: ☐ Diagnostic ☐ Predictive ☐Family studies
Known Consanguinity: ☐ Yes ☐ No If yes, please describe degree of relation:
REQUESTING HEALTH PROFESSIONAL
Full Name: Position/Department/Institution:

Signature: Date:

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 Accredited for compliance with NPAAC Standards and ISO 15189 Accreditation No.
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HELPFUL HINTS

Clinical Description
• A detailed clinical description can significantly improve the chance of finding a genetic diagnosis
• Rare or unusual signs or symptoms can be most helpful for genotype:phenotype correlation
• Please add extra clinical notes to the request form if available
• Human Phenotype Ontology (HPO) terms provide a standardized, hierarchical vocabulary of phenotypic
abnormalities encountered in human disease. They can be found at this website: https://hpo.jax.org/app/
• A Clinical Geneticist can help with this

Family History
• Genetics is a science that involves families
• Clinical Genomics includes filtering through ≈25,000 DNA variations per patient. It is a ‘needle in the haystack’
problem. Three things help genome scientists find an answer:
1. Detailed clinical description (see points above)
2. Clinically annotated family pedigree (see 2 examples below), and
3. Inclusion of relatives in the testing process. A distant relative with the same condition can be most valuable
for the variant filtering process

Example 1. Unaffected (consanguineous) parents, 1 affected male offspring, 1 unaffected female offspring

Possible modes of inheritance

• Autosomal Recessive with both parents’ carriers (most likely scenario
due to consanguinity)
• De Novo (new) dominant variant in male offspring
• Autosomal Dominant with incomplete penetrance
• X-Linked Recessive inheritance from mother
• Complex inheritance involving more than 1 gene

Male Proband (affected)

Example 2. Multigenerational family with two fathers & one mother. Affected monozygotic (identical) twins from one side
with a partially affected mother (variable expressivity) and cousin also affected. Unaffected dizygotic (fraternal) twins on the
other side. Deceased grandparents with unknown phenotype.

? ?
partially affected unaffected
(variable expression) (incomplete penetrance)

affected (phenotype penetrant)

both affected

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 Accredited for compliance with NPAAC Standards and ISO 15189 Accreditation No.
20401

Part B: Genomic Testing Consent Form: ADULT

PATIENT DETAILS

MRN: Phone/ Mobile:

Surname: Address:

Given Name: DOB:

Gender: ☐ Female ☐ Male ☐ Unknown Email:

PATIENT CONSENT
I understand:
• My DNA will be tested, by whole exome sequencing (WES), for genes associated with my / my child’s condition.
• This test is NOT a general health test and will not identify all gene changes that could contribute to health problems in the future.
• Possible results: A range of clinical results may be reported. The results may include DNA variation that is well understood or results that
are currently uncertain which may be clarified in the future or require further testing to interpret.
• There is a small chance a genetic variant may be identified that is associated with an unrelated condition that may develop in the future,
or that may reveal carrier status of an unrelated condition, these are defined as incidental findings. Incidental findings are rare (found in
approximately 1% of cases). Only incidental findings that have a >90% confidence of being clinically relevant are reported.
• Test results may have implications for the health care of my blood relatives.
• Testing may reveal non-paternity or non-maternity of a presumed natural parent.
• Testing will not currently affect the ability to obtain health insurance but may affect applications for some types of risk-rated insurances
such as life and income protection insurance.
• My DNA sample and genomic data will be stored in accordance with national diagnostic laboratory guidelines.
• My genomic data and associated healthcare information can be used and disclosed in accordance with applicable health privacy laws.
• Testing is voluntary and I can withdraw or cancel testing at any stage.
• My de-identified genomic data and associated health information may be submitted to national or international clinical databases
(restricted access).
• The American College of Medical Genetics and Genomics (ACMG) recommends the additional screening of 59 specific genes when an
exome is clinically analysed. The conditions linked to pathological DNA variants in these genes are well understood and sufficiently serious
to recommend clinical follow up and could be used in the future to inform clinical treatment. Only DNA variants with a >90% likelihood of
being clinically relevant are reported. This occurs in a small minority of cases.
Do you want this test to extend to these 59 genes (refer to gene listing by disorder below*) ☐ Yes ☐ No

• Sharing information with health practitioners involved in the care of the patient and genetic relatives is important in individual and family
care. It reduces the work required for informing relevant practitioners and allows access to information that is relevant for other family
members.
☐ I consent ☐ I do not consent - to share my information with other relevant health practitioners.

I consent to the genomic testing described above. Genomic testing has been explained to me by a health professional and I have had the
opportunity to ask questions and I am satisfied with the explanations.

Patient / Parent / Guardian Name Patient / Parent/ Guardian Signature Date

Health Professional Name Health Professional Signature Date

*ACMG 59 genes (grouped by main associated disorder):

Cardiovascular disease risk genes: LDLR, APOB, PCSK9, KCNH2, KCNQ1, SCN5A, MYBPC3, MYH11, MYH7, MYL2, MYL3, TNNI3, TNNT2, RYR2,
PRKAG2, DSC2, DSG2, DSP, ACTA2, ACTC1, LMNA, PKP2, SMAD3, TMEM43, TPM1
Cancer risk genes: BRCA1, BRCA2, APC, MLH1, MSH2, MSH6, MUTYH, BMPR1A, PMS2 TP53, RET, RB1, VHL, WT1, MEN1, NF2, SDHAF2, SDHB,
SDHC, SDHD, SMAD4, STK11, TGFBR1, TGFBR2
Musculoskeletal disorder genes: FBN1, CACNA1S, RYR1, COL3A1
Neurological / Intellectual disorder risk genes: PTEN, TSC1, TSC2
Biochemical disorder genes: ATP7B, GLA, OTC

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 Accredited for compliance with NPAAC Standards and ISO 15189 Accreditation No.
20401

Part C: Genomic Testing Consent Form: PAEDIATRIC

PATIENT DETAILS

MRN: Phone/ Mobile:

Surname: Address:

Given Name: DOB:

Gender: ☐ Female ☐ Male ☐ Unknown Email:

PATIENT CONSENT
I understand:
• My child’s DNA will be tested, by whole exome sequencing (WES), for genes associated with my child’s condition.
• This test is NOT a general health test and will not identify all gene changes that could contribute to health problems in the future.
• Possible results: A range of clinical results may be reported. The results may include DNA variation that is well understood or results that
are currently uncertain which may be clarified in the future or require further testing to interpret.
• There is a small chance genetic variants may be identified that are associated with an unrelated condition that may develop in the future,
or that may reveal carrier status of an unrelated condition, these are defined as incidental findings. Incidental findings are rare (found in
approximately 1% of cases). Only incidental findings that have a >90% confidence of being clinically relevant and are likely to develop in
childhood are reported.
• Test results may have implications for the health care of my blood relatives.
• Testing may reveal non-paternity or non-maternity of a presumed natural parent.
• Testing will not currently affect the ability to obtain health insurance but may affect applications for some types of risk-rated insurances
such as life and income protection insurance.
• My child’s DNA sample and genomic data will be stored in accordance with national diagnostic laboratory guidelines.
• My child’s genomic data and associated healthcare information can be used and disclosed in accordance with applicable health privacy
laws.
• Testing is voluntary and I can withdraw or cancel testing at any stage.
• My child’s de-identified genomic data and associated health information will be submitted to national or international clinical databases
(restricted access).
• Sharing information with health practitioners involved in the care of the patient and genetic relatives is important in individual and family
care. It reduces the work required for informing relevant practitioners and allows access to information that is relevant for other family
members.
☐ I consent ☐ I do not consent - to share my child’s information with other relevant health practitioners.

I consent to the genomic testing described above. Genomic testing has been explained to me by a health professional and I have had the
opportunity to ask questions and I am satisfied with the explanations.

Patient / Parent / Guardian Name Patient / Parent/ Guardian Signature Date

Health Professional Name Health Professional Signature Date

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