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MOLECULAR GENETICS REQUISITION (McGill University Health Centre)

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PATIENT STAMP OR LABEL HERE
Name (Last, First):*
Birth date (YYYY-MM-DD):* / /
Father’s name:
Mother’s name:
Medical Record # (MRN):*
RAMQ # :*
For babies, please provide mother’s RAMQ #
Gender:* Male Female Unknown
MOLECULAR GENETICS REQUISITION
Core Molecular Diagnostic Laboratory (CMDL) (CLIA #99D1042152)
OPTILAB-MUHC Genetics
1001 Decarie boul., E05.5051
Montreal, QC, H4A 3J1 Canada
Tel: 514-934-1934 x23383 / x23298 Fax: 514-843-1661
Referring Physician:*
Name (Last, First):*
License #:* Institution:*
Address:*
e-mail address:*
Tel:* Fax:*
Genetic counsellor/Nurse:
Tel: Fax:
I acknowledge that the patient/guardian is aware of the benefits, limitations
and risks associated with the requested test(s) and that I have obtained
informed consent to perform genetic testing for this patient. I authorize the
laboratory to fax results to the number provided above.
Signature:* _____________________ Date:* / /
Test Requested:*
Write below OR check boxes on page 2 if more than one test is requested
Reason for Testing:*
Confirm diagnosis (affected case)
Carrier testing (unaffected case - for recessive conditions)
Predictive testing (unaffected case - for dominant conditions)
Prenatal testing (maternal sample required)
Drug response (pharmacogenetics)
Other – Specify:
Reason for expedited testing (if applicable):
Pregnancy (Gestational age: weeks on / / )
Other reason – Specify:
Sample Information:* Familial Variant Analysis:
Collection Date - Time:* / / at h min
Collected by (Last, First):*
2 x 4mL blood in EDTA tubes (purple top tube) - 2 mL for newborns
DNA: min 10 ug – Source:
Amniotic fluid: min 10 mL
Cultured amniocytes: 2 x T25 flasks (confluent)
Direct CVS: min 10 mg direct villi
Cultured CVS: 2 x T25 flasks (confluent)
Tissue – Specify:
Other – Specify:
Please check our test directory for test-specific sample requirements:
https://muhc.ca/health-professionnals-and-teaching/muhc-clinical-laboratories
Please attach a copy of the proband’s report. If the familial variant was not
previously tested at the CMDL, please provide a sample from a family
member known to be positive for this variant (i.e. a positive familial control).
Gene (HGNC symbol):
Variant(s) (HGVS format):
CMDL Family #:
Name of proband:
Relationship to proband:
Pedigree / Clinical Information:
Please draw or attach pedigree and provide relevant clinical information.
Ethnicity:*
CMDL - Laboratory use only:
SAMPLE LABEL(S) HERE
Date - Time received:
/ /
h min
Sample type and # of tubes:
Patient #:
Family #:
Ordering Checklist:*
Specimen tube labelled with at least two identifiers*
Completed test requisition (this form)*
Completed testing eligibility criteria form (if applicable)
Consent form
*Required information.
Samples will not be processed if information is missing.
(Fax # to send results)
DM-5891 (REV 2020/01/22) CUSM repro MUHC Page 1/2
CMDL - Laboratory use only:
SAMPLE LABEL(S) HERE
PATIENT STAMP OR LABEL HERE
Name (Last, First):*
Birth date (YYYY-MM-DD):* / /
Father’s name:
Mother’s name:
Medical Record # (MRN):*
RAMQ # :*
For babies, please provide mother’s RAMQ #
Gender:* Male Female Unknown
Date - Time received:
/ /
h min
Sample type and # of tubes:
Patient #:
Family #:
LIST OF TESTS & DISEASES
Please only use this page if more than one test is requested.
For prenatal testing and analysis of familial variants, please include information on page 1 (Familial Variant Analysis section).
Angelman / Prader-Willi syndrome
Phenotype: Angelman Prader-Willi
Methylation and deletion/duplication analysis
Uniparental disomy of chromosome 15 (parental samples required)
Ashkenazi Jewish Carrier Screening
HEXA, ASPA, IKBKAP recurrent variant analysis (Tay-Sachs disease,
Canavan disease, familial dysautonomia)
Known familial variant(s)
Cystic fibrosis and CFTR-related conditions
CFTR gene sequencing
Known familial variant(s)
HBB-related hemoglobinopathies
Phenotype: HbS HbC HbE Other:
β-thalassemia: Major Intermedia Trait/Minor
HBB gene sequencing (please provide haematological studies)
Known familial variant(s)
Hereditary Breast and Ovarian Cancer
BRCA1, BRCA2 Ashkenazi Jewish recurrent variant analysis
Known familial variant(s)
Hexosaminidase A deficiency (Tay-Sachs disease)
HEXA gene sequencing (please provide enzymatic testing results)
Known familial variant(s)
Hidrotic ectodermal dysplasia (Clouston syndrome)
GJB6 gene sequencing
Known familial variant(s)
Huntington disease
HTT trinucleotide repeat expansion analysis
For symptomatic cases, please provide clinical findings and family history.
For predictive testing, patients must be referred from a service offering
genetic counselling).
Male infertility
Y-chromosome microdeletion analysis
MCAD deficiency
ACADM recurrent variant (c.997A>G, p.Lys333Glu)
Known familial variant(s)
Methylmalonic acidemia
MMACHC gene sequencing
Known familial variant(s) (MMACHC, LMBRD1, MMAA, MMAB, MCEE,
CD320, and MUT genes)
Nonsyndromic hearing loss (DFNB1)
GJB2 gene sequencing and GJB2/6 recurrent deletions analysis
Known familial variant(s)
PAH deficiency
Phenotype: PKU Hyperphenylalaninemia
PAH gene sequencing
Known familial variant(s)
Pharmacogenetics
DPYD genotyping (4 recurrent variants)
Known familial variant(s)
For MUHC (Glen) only
Bank DNA (Medical Genetics only)
Bank RNA (Medical Genetics only)
Microsatellite analysis:
Maternal cell contamination analysis (maternal sample required)
Zygosity analysis
Specimen matching analysis
Other test – Specify:
(Please call first for information)
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Completed 16 September 2021

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