Cytogenetics and Molecular Genetics
Postnatal Genetic Test Requisition Form
Laboratory Services
Cytogenetics and Molecular Genetics Laboratory
Tel: (614) 722-5321 / Fax: (614) 722-5471
700 Children’s Drive Columbus, OH 43205
Tel: (614) 722-5477 / (800) 934-6575
NationwideChildrens.org/Lab
PATIENT INFORMATION (Please Print or Place ID Label)
Last Name
First Name
DOB
Sex
 Male
SSN
Patient ID # / MRN
City
State
 Female
Street Address
Phone Number
MI
Zip
 Euro. Caucasian  African American  Hispanic
 Native American  Ash. Jewish  Other______________________
Ethnicity (Check ALL that apply):
 Asian American
ORDERING PHYSICIAN INFORMATION (Please Print)
Physician Name
Phone
Fax
Street Address
City
State
Practice / Facility Name
NPI #
Physican Signature
Date
Zip
X
ADDITIONAL REPORT TO (Please Print)
Name
Phone
Fax
Genetic Counselor  Physician  Other
Name
Phone
Fax
Genetic Counselor  Physician  Other
SAMPLE INFORMATION (Please Print)
Collection Date
Collection Time
 AM Collected by (Full Name)
 PM
:
Specimen Type (Check ALL that apply):
 Peripheral Blood ( ______ mL EDTA; ______ mL NaHep)
 Cord Blood ( ______ mL EDTA; ______ mL NaHep)
 Tissue, Type_________________________________________
 DNA, Source__________________ & Conc.________________
CLINICAL INFORMATION (Please Print)
Indication for Testing
 Diagnostic
Is the Patient or Partner Currently Pregnant?
 Carrier
 No
 Yes (Gestational age: ____weeks ____days; EDC _______________ )
Clinical Findings (Attach clinical notes if available)
Family History (Attach pedigree if available)
 No relevant family history
ICD-10 Codes
 Positive family history (Describe in space below)
Affected Person’s Name_______________________________________ DOB________________ Variant/Mutation_______________________
Relationship to Patient________________________________ Tested at Nationwide Children's Lab ?  No  Yes: Accession#_______________
Page 1 of 6
Patient Name (or place patient ID label)
Last, First_________________________________
Laboratory Services
DOB or MRN______________________________
700 Children’s Drive Columbus, OH 43205
Tel: (614) 722-5477 / (800) 934-6575
http://NationwideChildrens.org/Laboratory-Services
EDTA (lavender-top) ; NaHep = Sodium Heparin (green-top), DO NOT use Lithium Heparin (also green-top) ; Test Code Listed Within [
]
CYTOGENETIC TEST REQUEST
 Chromosome Analysis, High Resolution Full Study (4mL NaHep) [PBCS]
 STAT Chromosome Report (verbal preliminary result in 2 business days, additional charges apply) [STATPB]
 Mosaicism Study (50 cells studied, beyond routine 20 cell study, to detect low-level mosaicism)
 Microarray Analysis with Reflex to Chromosome Analysis (4mL NaHep & 4mL EDTA) [SNPMA reflex to PBCS]
 Microarray Analysis ONLY (4mL NaHep & 4mL EDTA) [SNPMA]
 Parental Microarray Follow-up (4mL NaHep & 4mL EDTA) [PSNPMA] – Proband Accession #_________________
 FISH Study ONLY (4mL NaHep) [FISHON] – Specify Probe/Locus_____________________
MOLECULAR GENETIC TEST REQUEST – Attach Informed Consent Form for Genetic Testing
 ALK-Related Neuroblastoma Susceptibility, ALK Targeted Gene Sequencing of Exons 21-28 (4-8mL EDTA) [ALK]
Angelman Syndrome
 Methylation Analysis (4-8mL EDTA) [PWSASMETHYL]
If Methylation is Normal, Reflex to UBE3A Gene Sequencing [MOL63]?  No  Yes
 UBE3A Gene Sequencing ONLY (4-8mL EDTA) [UBE3A] – Requires previous negative methylation result
 UPD15: Uniparental Disomy Analysis for Chromosome 15 (4-8mL EDTA from patient and both parents; sample from at
least one parent required) [UNIDIS] – Requires previous positive methylation and negative 15q11.2 deletion result
Mother's Name__________________________________________________ Mother's DOB________________
Father's Name___________________________________________________ Father's DOB_________________
 BAP1 Tumor Predisposition Syndrome, BAP1 Gene Sequencing (4-8mL EDTA) [BAP1]
Cardio-Facio-Cutaneous Syndrome, Gene Sequencing (4-8mL EDTA)
 BRAF [BRAF]  MAP2K1 [MEK1]  MAP2K2 [MEK2]  KRAS [KRAS]
 Caveolinopathies, CAV3 Gene Sequencing (4-8mL EDTA) [CAV3]
Includes: CAV3-rRelated Distal Myopathy; CAV3-Related Hypertrophic Cardiomyopathy; CAV3-Related Isolated HyperCKemia; CAV3Related Rippling Muscle Disease; Limb-Girdle Muscular Dystrophy Type 1C
 CHARGE Syndrome, CHD7 Gene Sequencing (4-8mL EDTA) [CHD7]
Congenital Muscular Dystrophy, Gene Sequencing (4-8mL EDTA)
 FKRP [FKRP]  LAMA2 [MERGS]  SEPN1 [SEPN1]
 LMNA [LAC]
Costello Syndrome, Gene Sequencing (4-8mL EDTA)
 HRAS [HRAS]  KRAS [KRAS]
 Cystic Fibrosis Common Mutation Panel (4-8mL EDTA) [CYSFIB]
Provide the Ethnicity on Page 1 (required for proper risk estimation)
 Carrier Screen or  Diagnostic Test – If Diagnostic, is patient suspected of having CF?  No  Yes
Family History of CF?  No  Yes: Relationship to Patient________________________ & Mutation(s)__________________
 Dysferlinopathy, DYSF Gene Sequencing (4-8mL EDTA) [DYS]
Includes: Limb-Girdle Muscular Dystrophy Type 2B; Miyoshi Distal Myopathy
 Dystrophinopathy, DMD Gene Sequencing (4-8mL EDTA) [DMDGS]
Includes: Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, DMD-associated Cardiomyopathy; Dilated Cardiomyopathy 3B
 FBN1-Related Disorders, FBN1 Gene Sequencing (4-8mL EDTA) [FBN1SEQ]
Includes: Marfan Syndrome; Familial Ectopia Lentis; MASS Syndrome; Weill-Marchesani Syndrome; Stiff Skin Syndrome; Geleophysic
Dysplasia 2; Acromicric dysplasia
 FKRP-Related Muscle Diseases, FKRP Gene Sequencing (4-8mL EDTA) [FKRP]
Includes: MDC1C; Limb-Girdle Muscular Dystrophy Type 2I; Walker-Warburg Syndrome
 Fragile X Syndrome Diagnostic Analysis, PCR & Methylation (4mL EDTA) [XFRAGB] – Done at Outside Reference Laboratory
 Giant Axonal Neuropathy, GAN Gene Sequencing (4-8mL EDTA) [GAN]
Page 2 of 6
Patient Name (or place patient ID label)
Last, First_________________________________
Laboratory Services
DOB or MRN______________________________
700 Children’s Drive Columbus, OH 43205
Tel: (614) 722-5477 / (800) 934-6575
http://NationwideChildrens.org/Laboratory-Services
EDTA (lavender-top) ; NaHep = Sodium Heparin (green-top), DO NOT use Lithium Heparin (also green-top) ; Test Code Listed Within [
]
MOLECULAR GENETIC TEST REQUEST (Continued) – Attach Informed Consent Form for Genetic Testing
Hearing Loss / Congenital Deafness (4-8 mL EDTA)
 Connexin 26 Gene Sequencing, reflex to Connexin 30 Deletion [CONN reflex to CONN30]
 SLC26A4 Gene Sequencing (Pendred Syndrome & DFNB4) [PEND]
Kabuki Syndrome, Gene Sequencing (4-8 mL EDTA)
 KMT2D (MLL2) [KMT2DGS]
Krabbe Disease (4-8 mL EDTA)
Tier 1:  GALC Gene Common 30-kb Deletion Detection by PCR [KDGALCCD]
 GALC Gene Sequencing [KDGALCSEQ]
Tier 2:  GALC Gene Comprehensive Del/Dup Analysis by MLPA [KDGALCDD]
Tier 3:  PSAP Gene Sequencing [KDPSAPSEQ]
 Li-Fraumeni Syndrome, TP53 Gene Sequencing (4-8mL EDTA) [TP53GS]
 Marfan Syndrome, FBN1 Gene Sequencing (4-8mL EDTA) [FBN1SEQ]
 LAMA2-Related Muscular Dystrophy, LAMA2 Gene Sequencing (4-8mL EDTA) [MERGS]
Includes: Congenital Muscular Dystrophy (LAMA2-Related); Merosin-Deficient Congenital Muscular Dystrophy Type 1A, Early-Onset LAMA2
Deficiency; Late-Onset LAMA2 Deficiency
 LMNA-Related Disorders, LMNA Gene Sequencing (4-8mL EDTA) [LAC]
Includes: Congenital Muscular Dystrophy (LMNA-Related); Limb-Girdle Muscular Dystrophy Type 1B; Dilated Cardiomyopathy 1A; LMNARelated Emery-Dreifuss Muscular Dystrophy; Charcot-Marie-Tooth Neuropathy Type 2B1; Hutchinson-Gilford Progeria Syndrome
Limb Girdle Muscular Dystrophy Type 1 (Dominant), Gene Sequencing (4-8mL EDTA)
 LGMD1A: MYOT (Myotilin) [MYO]
 LGMD1B: LMNA (Lamin-A/C) [LAC]
 LGMD1C: CAV3(Caveolin-3) [CAV3]
 LGMD1E: DNAJB6 [DNAJB6]
Limb Girdle Muscular Dystrophy Type 2 (Recessive), Gene Sequencing (4-8mL EDTA)
 LGMD2A: CAPN3 (Calpain-3) [CAL]
 LGMD2B: DYSF (Dysferlin) [DYS]
 LGMD2C: SGCG (Gamma-Sarcoglycan) [GSG]
 LGMD2D: SGCA (Alpha-Sarcoglycan) [ASG]
 LGMD2E: SGCB (Beta-Sarcoglycan) [BSG]
 LGMD2F: SGCD (Delta-Sarcoglycan) [DSG]
 LGMD2I: FKRP (Fukutin-Related Protein) [FKRP]
 LGMD2L: ANO5 (Anoctamin-5) [ANO5]
 Myotilinopathy, MYOT Gene Sequencing (4-8mL EDTA) [MYO]
Includes: Myofibrillar Myopathy; Myotilin-Related Myopathy; Limb-Girdle Muscular Dystrophy Type 1A
Noonan Syndrome and Related Disorders, Single Gene Sanger Sequencing (4-8mL EDTA)
 PTPN11 [NTI]
 SOS1 [SOS1]
 RAF1 [RAF1]
 KRAS [KRAS]
 NRAS [NRAS]
 SHOC2 [SHOC2]
 BRAF [BMPR]
 MAP2K1[MEK1]
 MAP2K2 [MEK2]
 HRAS [HRAS]
*For NGS Gene Panel for Noonan Spectrum Disorders (RASopathies), see the NGS TEST REQUEST section below
 NOTCH1 Gene Sequencing (4-8mL EDTA) [NOTCH1T1]
Includes Left Ventricular Outflow Tract Obstruction/Aortic Valve Disease; Adams-Oliver syndrome 5
 POLG-Related Disorders, POLG Gene Sequencing (4-8mL EDTA) [POLGSEQ]
Includes: Alpers-Huttenlocher Syndrome; Childhood Myocerebro-Hepatopathy Spectrum (MCHS); Myoclonic Epilepsy; Myopathy and
Sensory Ataxia (MEMSA spectrum); Ataxia Neuropathy Spectrum (ANS); Autosomal Recessive Progressive External Ophthalmoplegia
(arPEO); Autosomal Dominant Progressive External Ophthalmoplegia (adPEO); Valproic Acid (VPA) Induced Liver Failure
Prader-Willi Syndrome
 Methylation Analysis (4-8mL EDTA) [PWSASMETHYL]
 UPD15: Uniparental Disomy Analysis for Chromosome 15 (4-8mL EDTA from proband and both parents; sample from at
least one parent required) [UNIDIS] – Requires previous positive methylation and negative 15q11.2 deletion result
Mother's Name__________________________________________________ Mother's DOB________________
Father's Name___________________________________________________ Father's DOB_________________
 SCAD Polymorphism Sequence Analysis, Exons 5 and 6 Only (4mL EDTA) [SCAD]
Page 3 of 6
Patient Name (or place patient ID label)
Last, First_________________________________
Laboratory Services
DOB or MRN______________________________
700 Children’s Drive Columbus, OH 43205
Tel: (614) 722-5477 / (800) 934-6575
http://NationwideChildrens.org/Laboratory-Services
EDTA (lavender-top) ; NaHep = Sodium Heparin (green-top), DO NOT use Lithium Heparin (also green-top) ; Test Code Listed Within [
]
MOLECULAR GENETIC TEST REQUEST (Continued) – Attach Informed Consent Form for Genetic Testing
 SEPN1-Related Myopathy, SEPN1 Gene Sequencing (4-8mL EDTA) [SEPN1]
Includes: Congenital Muscular Dystrophy with Early Spine Rigidity; Rigid Spine Syndrome; SEPN1-Related Multiminicore Disease
Thrombophilia Testing (4-8mL EDTA)
 Factor II Mutation Analysis (Prothrombin G20210A ) [F52MUT]
 Factor V Leiden Mutation Analysis [F52MUT]
 MTHFR Polymorphism Analysis (A1298C & C677T) [MTHFR]
 Antithrombin III Deficiency, SERPINC1 (AT3) Gene Sequencing [SERPGS]
 UPD15: Uniparental Disomy Analysis for Chromosome 15 (4-8mL EDTA from proband and both parents; sample from at
least one parent required) [UNIDIS]
Mother's Name__________________________________________________ Mother's DOB________________
Father's Name___________________________________________________ Father's DOB_________________
Reason for Study (REQUIRED): _________________________________________________________________________
 Y Chromosome Microdeletion Testing for Male Infertility (4mL EDTA) [YMICROD]
NGS (NEXT-GENERATION SEQUENCING) TEST REQUEST
*Required: Attach Completed Informed Consent Form for NGS-Based Testing
 NGS Noonan Spectrum Disorders Panel (NGS RASopathy Panel) (4-8 mL EDTA) [NGSRP]
14 Genes: PTPN11, SOS1, RAF1, KRAS, NRAS, SHOC2, BRAF, MAP2K1 (MEK1), MAP2K2 (MEK2), HRAS, RIT1, CBL, NF1, SPRED1
Includes: Noonan Syndrome; Costello Syndrome; LEOPARD Syndrome; Cardio-Facio-Cutaneous (CFC) Syndrome; Noonan Syndrome-Like
Disorder with/without Juvenile Myelomonocytic Leukemia; Neurofibromatosis-Noonan Syndrome; Legius Syndrome
 NGS Periodic Fever Syndromes Panel (4-8 mL EDTA) [NGSPFS]
8 Genes: MEFV, TNFRSF1A, MVK, NLRP3, NLRP12, ELANE, PSTPIP1, and LPIN2
Includes: Familial Mediterranean Fever; Familial Hibernian Fever; TNF-Receptor-Associated Periodic (TRAP) Syndrome; Mevalonate Kinase
Deficiency; Hyper-IgD Syndrome; Mevalonic Aciduria; Chronic Neurologic Cutaneous and Articular Syndrome; Neonatal-onset Multisystem
Inflammatory Disease; Cryopyrin-associated Periodic Syndrome 3; Familial Cold-induced Inflammatory Syndrome 1; Muckle-Wells
Syndrome; Familial Cold Autoinflammatory Syndrome 2; Cyclic Neutropenia; Autosomal Dominant Severe Congenital Neutropenia 1;
Pyrogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne; Majeed Syndrome
Other Notes / Special Instructions:
Page 4 of 6
Patient Name (or place patient ID label)
Last, First_________________________________
DOB or MRN______________________________
Laboratory Services
700 Children’s Drive Columbus, OH 43205
Tel: (614) 722-5477 / (800) 934-6575
http://NationwideChildrens.org/Laboratory-Services
BILLING INFORMATION
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Insurance bill option is only available for patients/insurance companies within the state of Ohio. For
insurance bill, please attach the front and back copy of the insurance card.
For out-of-Ohio patients/insurance companies, we accept institutional bill. We DO NOT insurance bill for
patients/insurance companies outside of Ohio.
We DO NOT offer Self Pay option at this time.
Pre-payment is required for samples referred from outside the U.S. or Canada.
Please contact ChildLab Client Services for more information at 1-800-934-6575.
 INSTITUTIONAL BILL (Please Print)
Contact Name
Phone
Fax
City
State
Institution / Hospital / Lab Name
Street Address
Zip
 OHIO INSURANCE BILL (Please Print) – Option Only for Ohio Patients/Insurances
Please Attach Copy of Insurance Card
Legal Guardian Last Name
Legal Guardian First Name, MI
Legal Guardian SSN
Relationship to Patient
 Self
 Spouse
Legal Guardian DOB
 Parent
 Other__________________
Subscriber Last Name
Subscriber First Name, MI
Subscriber DOB
Subscriber SSN
Employer
Insurance Co. Name
Policy #
Group #
Address
City, State
Zip
Secondary Insurance Co. Name
PATIENT CONSENT – For Insurance-Bill
I will fully abide with ChildLab by providing all necessary documents needed for insurance billing and
appeals. I understand that I am responsible for the payment of this test whether through my insurance
company or myself.
Patient Signature: X____________________________________________________________________
Page 5 of 6
Patient Name (or place patient ID label)
Last, First_________________________________
Laboratory Services
DOB or MRN______________________________
700 Children’s Drive Columbus, OH 43205
Cytogenetics and Molecular Genetics Laboratory
Tel: (614) 722-5477 / (800) 934-6575
Phone: (614) 722-5321 / FAX (614) 722-5471
http://NationwideChildrens.org/Laboratory-Services
INFORMED CONSENT FOR GENETIC TESTING
Patient Name____________________________________________________ Date of Birth_____________________
Testing to be Performed_____________________________________________________________________________
Purpose of Testing
I understand that blood/tumor/bone marrow samples from me/my child will be tested to determine the presence or absence of
certain genetic characteristics associated with a particular genetic disorder or diagnosis (germline), or associated with my/my
child’s cancer. It is the responsibility of the referring physician to ensure that I understand the implications of this testing. I
understand that participation in this testing is voluntary.
Accuracy of Testing
I understand that the accuracy of the testing is limited to the techniques used. I understand that, as with all complex testing, there is
always a chance of error or test failure. It is the responsibility of the referring physician to explain the limitations of the testing.
 Germline (Constitutional) Testing
The tests that will be performed on the samples aims to identify genetic features I (my child) was born with and are present in all
of my (child’s) cells. I understand that the accuracy of the testing is influenced by the information that I provide regarding myself
(my child), the medical history of family members, and biological relationships in my family. Testing may also reveal that my
(child’s) parents are related by blood. In addition, non-paternity may be detected in some family-based studies, and this result
may be reported to the referring health care provider.
 Cancer (Tumor) Testing
The primary aim of testing is to identify genetic changes in the cancer cells. The tests that will be performed on the samples
can, in rare cases, identify genetic changes I (my child) was born with and are present in all of my (child’s) cells (not just the
cancer cells). This could include a genetic disorder caused by gene mutation, gain or loss of DNA, or determination that my
(child’s) parents are related by blood. If changes in the non-cancer cells are found that are thought by the testing laboratory to
have significant clinical importance, the results may be communicated to the referring physician for consideration of follow-up
testing.
Reporting of Results
I understand that the results of this testing will be reported only to the referring healthcare provider, or to a designated professional. All
results are confidential and will be reported to other individuals only with my written consent, unless otherwise required by law.
Disposition of Samples
I understand that a portion (an aliquot) of my (child’s) sample will be kept with identifiers intact, and it may be available for additional
testing as ordered by my healthcare provider. I will not consider this as a banking procedure, and the laboratory will not be
responsible for ensuring that the sample is available in the future. The remainder of the sample can be used for research-based
testing with the option that I have checked below.
I give the following permission regarding research use of the unused portion of my (child’s) sample (please choose ONE):
[Please note: if neither option is marked, the first option will apply and consent to research will be implied.]
 Can be used for research purposes including studies designed to investigate the cause of my (child’s) condition
without removing the identifying information on the sample. Results, at the discretion of the laboratory, may be
communicated through the referring physician.
 Can be used for research purposes only after the identifying information is removed from the sample. I understand that
I will not be given any results from the testing, because the sample will be anonymous.
 Cannot be used for research purposes.
Signature of Signature of Patient/Parent/Guardian: Signature of Patient/Parent/Guardian: I consent to participate (or have my child
participate) in genetic testing for the above mentioned scenario. The testing has been explained to me, including its limitations and
implications, and I have been given the opportunity to ask questions which have been answered in a satisfactory manner.
Date/Time
Signature of Ordering Clinician: I have explained the testing, limitations, consent, and implications to the patient/parent and accept
responsibility for ensuring genetic counseling is provided.
Date/TIme
A signed copy should be provided to the Patient/Parent/Guardian. LA-90
Informed Consent for Genetic Testing 2/07; Revised 6/16/15
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