Download Sample Submission Form

Sample Submission Form
Cytogenetics
where Rare is Common
For our PRENATAL cytogenetic and molecular testing, please use the prenatal submission form available at www.genedx.com. For other
testing services for rare Mendelian disorders, autism, cardiology, and mitochondrial testing, please use the specific submission forms also
available at www.genedx.com.
Patient information
Test requested
First name
Gender:
❒
Please select choice and provide clinical information below
❏ 910 GenomeDx: Whole-Genome Chromosomal Microarray (CMA)
❏ 460 Whole-Genome Chromosomal Microarray for POC
❏ 4343 Chromosome Analysis, Peripheral blood (routine study)
❏ 4345 Chromosome Analysis, Peripheral blood (rule out mosaicism)
❏ 4344 Chromosome Analysis, POC/skin
❏ 336 FISH (Please specify chromosomal region or disorder)
Last name
Female
❒
Male
❒
Unknown
Date of birth (mm/dd/yy)
1. ________________________
Mailing address
City
State
Home phone
Work Phone
2. ________________________
❏ 905 Known Familial Deletion/Duplication Testing
❏ Parental Follow-up Testing for copy number variant(s)
Zip Code
Patient Clinical Information:
Please fill-out page 2 for any relevant clinical information
Reporting Address
Diagnosis:__________________________________________________
ICD-9 Codes:_______________________________________________
Dysmorphic features: _________________________________________
Physician / Genetic counselor
Congenital heart disease:_______________________________________
Mailing address
Other medical problems:_______________________________________
Suspected syndrome(s):________________________________________
City
State
Zip code
Phone
Fax (important)
Beeper
Email
Previous cytogenetics:_____________________________(attach copy)
Family history: ______________________________________________
_________________________________________________________
_________________________________________________________
_________________________________________________________
Duplicate Report Address
Expedited Testing. I would like expedited testing for the reason:
❒ Pregnancy (gestational age: _____________ weeks)
❒ Transplantation
❒ Other _________________________________
Physician / Genetic counselor
Mailing address
Phone
Fax (important)
Beeper
Email
Patient Consent
I have read the Informed Consent document and I give permission to GeneDx
to perform genetic testing as described. I will cooperate fully with GeneDx by
providing all necessary documents needed for insurance billing and appeals. I
understand that I am responsible for sending GeneDx any and all of the money
that I receive directly from my insurance company in payment for this test.
Sample Information
Medical record #
Specimen ID #
Date sample obtained (mm/dd/yy)
Sample Type
❒ blood in EDTA (for array CGH; purple top - single tube of 2-5mL)
❒ blood in sodium heparin (for FISH and chromosome analysis; green top -
single tube of 2-5mL)
❒ DNA: source ___________ (tissue?) / concentration_________ (μg/mL)
❒ Fetal sample ______________________________________ (tissue?)
If other samples submitted
Relationship to patient
Name
Sample type
Relationship to patient
Name
Sample type
Patient Sign Here:_____________________________________________
Ordering Checklist
❒
❒
Sample submission form
Informed consent (page 4)
❒ Completed payment form (page 3)
❒ Specimen tube, appropriately labeled
For office use only:
© GeneDx 09/12 207 Perry Parkway, Gaithersburg, MD 20877 • (301) 519-2100 • Fax: (301) 519-2892 • www.genedx.com
Page 1 of 5
Sample Submission Form
Cytogenetics
where Rare is Common
Patient information
First name
Last name
Patient Clinical Information cont.
This information is crucial for interpretation of array CGH results. Please check all that apply (if standard karyotype done, list below):
Perinatal History:
❏ Prematurity
❏ IUGR
❏ Oligohydamnios
❏ Polyhydramnios
❏ Other:___________________
Growth:
❏ Failure to thrive
❏ Overgrowth
❏ Short stature
❏ Other:___________________
Development:
❏ Fine motor delay
❏ Gross motor delay
❏ Speech delay
❏ Other:___________________
Cognitive:
❏ Learning disability
❏ Mental retardation
List IQ/DB, if known________
❏ Other:___________________
Behavioral:
❏ Autistic features
❏ Autism spectrum disorder
❏ Oppositional-defiant disorder
❏ Obsessive-compulsive disorder
❏ Other:___________________
Neurological:
Ataxia
Dystonia
Chorea
Hypotonia
Neural tube defect
Seizures
Spasticity
Structural brain anomaly
Other:___________________
Musculoskeletal:
❏ Contractures
❏ Club foot
❏ Diaphragmatic hernia
❏ Limb anomaly
❏ Polydactyly
❏ Scoliosis
❏ Syndactyly
❏ Vertebral anomaly
❏ Other:___________________
Cardiac:
❏ ASD
❏ AV canal defect
❏ Coarctation of aorta
❏ Hypoplastic left heart
❏ Tetralogy of Fallot
❏ VSD
❏ Other:___________________
Gastrointestinal:
❏ Gastroschisis
❏ Hirschsprung disease
❏ Omphalocele
❏ Pyloric stenosis
❏ Tracheoesophageal fistula
❏ Other:___________________
❏
❏
❏
❏
❏
❏
❏
❏
❏
Craniofacial:
❏ Cleft lip
❏ Cleft palate
❏ Coloboma of eye
❏ Craniosynostosis
❏ Dysmorphic facial features
❏ Ear malformation
❏ Macrocephaly
❏ Microcephaly
List HC, if known:_________
❏ Other:___________________
Genitourinary:
❏ Ambiguous genitalia
❏ Hydronephrosis
❏ Hypospadias
❏ Kidney malformation
❏ Undescended testis
❏ Urethral obstruction
❏ Other:___________________
Family History:
❏ Parents with >=2 miscarriages
❏ Other relatives with similar clinical history
(please explain below)
Cutaneous:
❏ Hyperpigmentation
❏ Hypopigmentation
❏ Other:___________________
Clinical description - include any additional relevant clinical information not provided above
© GeneDx 09/12 207 Perry Parkway, Gaithersburg, MD 20877 • (301) 519-2100 • Fax: (301) 519-2892 • www.genedx.com
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Payment Options
Institutional billing information:
BILLING STAMP
GeneDx Account #
Hospital/Lab Name
Contact Name
Address
City
State
Phone
Fax
Zip Code
Test
Insurance policy
Patient responsibility
Whole-genome array CGH (GenomeDx)
and chromosome analysis
GeneDx will bill and appeal on patient’s behalf
Targeted array CGH (FISHonChipDx)
and FISH
GeneDx will courtesy bill insurance and then bill
unpaid balance to patient’s credit card
Insurance billing
Any unpaid balance after insurance
reimbursement is complete
Patient pre-payment
(Note: FISHonChipDx and FISH tests require credit card information)
r
Co-pay, co-insurance and
unmet deductibles only
I understand that my credit card will be charged the full
amount for the testing
I have prior authorization # _________________________________________
Please bill my credit card (all major cards accepted)
Name of insured
Date of birth (mm/dd/yy)
Relationship to insured:
r
Self
r
r
Spouse
Child
r
Other ___________
Insurance carrier
Name as it appears on the card
r
Mastercard
r
r
American Express
Visa
r
Discover
ID #
Account number
Group #
Policy name
Expiration date (mm/yy)
CVC
Social security #
Amount (USD)
Please include a copy of the front and back of the patient’s insurance card.
GeneDx will bill the insurance company and appeal for payment on the patient’s behalf.
Signature
Date
r
I would like GeneDx to bill my credit card for my portion of
the test cost
Note: GeneDx provides a financial assistance program or
hardship discount for patients who do not carry a
commercial insurance plan and cannot afford to pay
out-of-pocket. Please call 301-519-2100 x6106
Name as it appears on the card
r
Mastercard
r
Visa
r
Discover
r
American Express
Account number
Expiration date (mm/yy)
Signature
Date
© GeneDx 06/12
CVC
207 Perry Parkway, Gaithersburg, MD 20877 • (301) 519-2100 • Fax: (301) 519-2892 • www.genedx.com
Page 3 of 5
Sample Submission Form
where Rare is Common
Cytogenetics Informed
Consent Document
My signature on this consent form indicates that I request genetic testing at GeneDx for:
_____________________________________________________________________________________
I understand that participation in genetic testing is voluntary.
General information about genetic testing:
1 Genetic disorders may be caused by mutations (changes) in the DNA sequence that makes up a gene. Genetic disorders may also be
due to a deletion (loss) or duplication (gain) of genetic material. The deletion or duplication may include part of a gene or chromosome,
an entire gene or chromosome, or multiple genes or chromosomes.
2 The purpose of genetic testing is to evaluate for changes in the DNA sequence of a gene or for deletions or duplications of gene(s) or
deletions, duplications or rearrangements of chromosomes. This test may help determine if {I am/my child is} affected with, or at risk to
someday be affected with, a specific genetic disorder.
3 This test cannot identify all types of mutations, deletions or duplications causing genetic disorders.
4 I understand that this test is not the only way to look for genetic abnormalities. My healthcare provider may recommend this test
before or after ordering other genetic or laboratory tests in {me/ my child}. Information about the specific types of genetic
abnormalities that can be identified by the test(s) is available from {my/my child’s} healthcare provider and can be found on the GeneDx
website: http://www.genedx.com.
5 This test requires high-quality DNA. In some cases, an additional sample may be needed if the volume, quality and/or condition of the initial
specimen is not adequate.
6 Mosaicism can be missed, or inconclusive results may occur if mosaicism is present.
What can I find out from this test?
1 I may learn that no genetic or chromosomal abnormality was detected. This outcome does not mean that (I/my child) does not have a
genetic disease.
2 I may learn that a genetic or chromosomal abnormality was identified that explains the cause of a disorder that I already know I have or
that my child has.
3 I may learn that a genetic or chromosomal abnormality was identified and may have possible long-term medical concerns that I do not
already know about. My physician will be informed of any such long-term risks, according to current medical understanding. This test
does not detect all long-term medical risks that (I/my child) may be subject to.
4 I may learn that a variant of uncertain clinical significance was identified by this test. This means that a genetic change (variant) was
identified, but it is unknown whether the variant is the cause of the medical problems in {me/my child}.
Information specific for Chromosome Analysis
1 Typically, small structural abnormalities less than 5-10 Mb in size cannot be visualized by G-band chromosome analysis.
2 These types of studies do not rule out other genetic abnormalities such as submicroscopic or molecular defects (mutations), uniparental
disomy or subtelomeric rearrangements.
Information specific for whole-genome chromosomal microarray (CMA) to determine copy number and
uniparental disomy (UPD) on the genome level
1 CMA is indicated for clinical disorders in which a chromosomal abnormality is suspected.
2 This analysis can detect deletions or duplications ranging in length from 15 kb to an entire chromosome. In certain regions, it can detect
deletions or duplications as small as 0.5 kb.
3 This analysis can detect stretches of homozygosity extending greater than 5 Mb, which are seen with uniparental disomy (UPD) or
identity by descent (also called IBD or consanguinity). Homozygosity will be reported when it exceeds 4% of the haploid genome,
suggesting identity by descent. It will also be reported as possible UPD when >25 Mb of homozygosity is noted on a single chromosome
in the absence of other significant homozygosity in the genome.
4 This analysis cannot detect balanced chromosomal translocations or inversions in which the amount of DNA material remains
unaltered. It cannot detect genomic changes in regions that are not represented on the microarray. Very small changes that are beyond
the resolution of the array can also go undetected.
© GeneDx 09/12 207 Perry Parkway, Gaithersburg, MD 20877 • (301) 519-2100 • Fax: (301) 519-2892 • www.genedx.com
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Sample Submission Form
where Rare is Common
Cytogenetics Informed
Consent Document
Parental testing
1 Some areas of the human genome can exist in less or more than the normal quantity (copy number) and not cause medical problems.
These occurrences represent normal genetic variation between individuals.
2 When a genetic abnormality is found, it is important to find out if a parent also carries it. If the genetic abnormality proves to be a
spontaneous change in the child’s DNA it is more likely (but not absolutely certainly) that it is responsible for the medical problems.
3 Accurate interpretation of the test results requires knowledge of the true biological relationships in a family. Failing to accurately
disclose the biological relationships in a family may result in incorrect interpretation of results, incorrect diagnoses, and/or inconclusive
test results.
4 Genetic testing may reveal that true biological relationships in a family are not as they were reported. For example, non-paternity means
that the stated father of an individual is not the true biological father. It is possible that this test may detect non-paternity, and it may be
necessary to report this finding to the individual(s) who requested testing.
Patient confidentiality and counseling
1 To maintain confidentiality, results will only be released to the referring physician or health care provider, ordering laboratory, and/or
others as entitled by law.
2 Information obtained from the array CGH test may be used in scientific publications or presentations, but the identity of all individuals
studied will not be revealed in such publications or presentations.
3 It is recommended that I receive genetic counseling regarding array CGH before and after the test. Further testing or additional
consultations with physicians may be necessary.
Specimen retention
1 Submitted specimens are not banked at GeneDx. DNA samples are not returned to individuals or referring physicians.
2 In some cases, if further diagnostic tests are needed, a referring physician may request in writing that additional tests be performed on
an existing DNA sample (additional costs apply). Additional testing will not be performed unless requested by an authorized healthcare
professional.
3 DNA samples may be kept by the laboratory for up to 25 years. DNA samples may be available for additional diagnostic testing as
indicated above and may be used for internal laboratory quality assurance purposes. In some cases, anonymized DNA may be used by
the laboratory for new test development after all identifiers have been removed. _______ (Please initial to consent)
4 New York State Residents: DNA sample can be retained for greater than 60 days after the completion of testing. ________ (Please
initial to consent)
Sign here to provide consent for array CGH testing at GeneDx:
Patient Signature: __________________________________________ Date: _______________________
Health Care Provider’s Statement: By my signature below, I indicate that I am the referring physician or authorized health care provider. I have explained the purpose of the test
described above. The patient has been given the opportunity to ask questions and/or seek genetic counseling. The patient has voluntarily decided to have the test performed by
GeneDx.
Health Care Provider’s Signature: ____________________________________ Date: ________________
GeneDx participates in the International Standard Cytogenetic Array (ISCA) consortium. Anonymized array CGH data and clinical information may be submitted to a
HIPAA-compliant, de-identified public database as part of the National Institute of Health’s effort to improve diagnostic testing and enhance our understanding of the relationships
between genetic changes and clinical symptoms (visit the consortium website at https://iscaconsortium.org). Confidentiality of each sample is maintained. If you wish to not have
genomic information derived from your blood/DNA sample submitted to a database, although it is anonymous, please check the box below.
❒ Refusal for inclusion in these efforts may be indicated by checking this box. (If the box is not marked, data will be anonymized and submitted)
© GeneDx 09/12 207 Perry Parkway, Gaithersburg, MD 20877 • (301) 519-2100 • Fax: (301) 519-2892 • www.genedx.com
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