Download Genetic Testing Requisition Form

Genetic Testing Requisition Form
9 Hope Avenue
Waltham, MA 02453
Phone: (781) 216 – 2850
Fax: (781) 216 – 2857
www.childrenshospital.org/dnalab
CLIA ID#: 22D0950490
Patient Information
Last Name ____________________
First Name ____________________
MI ___
Male
Date of Birth ___/___/______ (MM/DD/YYYY)
Gender
MR# ________________
Female
Unknown
Ordering Provider and Billing Information (all tests will be billed to the institution)
Last Name ____________________
First Name ____________________
NPI# _______________________ Specialty ______________________
Institution ________________________________________________________ Client Code ___________
Mailing Address _____________________________________________________________________
City ______________________
State _____ Country ______________ Zip Code _________
Phone (____) _____-________
Fax (____) _____-________
Pager (____) _____-__________
Email _________________________________________________________
Preferred Contact Person, if different from above _________________________________________
Phone (____) _____-________
Fax (____) _____-________
Pager (____) _____-__________
Email _________________________________________________________
Additional Result Recipient
Last Name ____________________
First Name ____________________
Institution ________________________________________________________
Mailing Address _____________________________________________________________________
City ______________________
State _____ Country ______________ Zip Code _________
Phone (____) _____-________
Fax (____) _____-________
Pager (____) _____-__________
Email _________________________________________________________
Test Information
Test(s) Requested: Please indicate on following pages
Specimen Type
Blood (3-5mL EDTA)
Extracted DNA (provide source and extraction method)
Skin biopsy
Other (requires prior consultation with laboratory)
Indication
Diagnostic
Non-Diagnostic (Additional consent required)
ICD-9 Code(s) _________ (code)
_________ (code) _________ (code) _________ (code) _________ (code)
Clinical Information: Attach clinical features checklist if ordering Muscular Dystrophy Sequencing Panel
Confirmation of Informed Consent for Genetic Testing:
By ordering genetic testing, I ____________________ (print name)
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•
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Certify that I am a practitioner authorized to order genetic testing in the location where I practice.
Assume responsibility for returning the results of genetic testing to my patient and/or legal guardian and for ensuring that my
patient receives appropriate genetic counseling to understand the implications of his/her test results.
Acknowledge that the patient/legal guardian has been provided information regarding the risks, benefits, and limitations of the
test(s) ordered and the patient/legal guardian has given consent for the ordered tests to be performed and the signed consent form
is on file.
___________________________________________ (Signature) _____________ (Date)
Patient Name
Achondroplasia
FGFR3 mutation analysis
Alagille syndrome
JAG1 sequencing
JAG1 deletion/duplication
Albinism:
OCA1 sequencing [TYR]
OCA2-2.7 kb deletion [P2.7]
OCA2 sequencing
Angelman syndrome (AS)
Methylation and deletion [AS/PWS]
Uniparental disomy [UPD 15] (Will be
done following methylation and deletion
testing if necessary)
(Both Parents’ Blood Samples Required for
UPD testing)
UBE3A sequencing
Atypical Angelman/Rett syndrome
CDKL5/STK9 sequencing
FOXG1 sequencing
SLC9A6 sequencing
TCF4 sequencing
TCF4 deletion/duplication
Autism Susceptibility
NLGN3 sequencing
NLGN4X sequencing
Cleft Lip/Cleft Palate
IRF6 sequencing
MSX1 sequencing
TBX22 sequencing
CHARGE syndrome
CHD7 sequencing
Cockayne syndrome
CSA sequencing [ERCC8]
CSA deletion/duplication
CSB sequencing [ERCC6]
CSB deletion/duplication
Congenital Secretory Chloride Diarrhea
SLC26A3 sequencing
Craniosynostosis syndromes
FGFR1exon 7 sequencing
FGFR2 sequencing
FGFR3 Muenke mutation analysis
FGFR3 Crouzon w/ acanthosis nigricans
mutation analysis
TWIST1 sequencing
TWIST1 deletion/duplication
Ehlers Danlos syndrome type VII
COL1A1 sequencing
COL1A2 sequencing
DOB
Epilepsy with Febrile Seizures
GABRG2 sequencing
SCN1B sequencing
Fanconi anemia (FA)
FANCA sequencing
FANCC sequencing
FANCG sequencing
Fragile X analysis [FMR1]
CGG repeat analysis
Frontonasal Dysplasia
ALX3 sequencing
Galactosemia [GALT]
GALT sequencing
GALT deletion/duplication
Gilbert syndrome [UGT1A]
TA repeat analysis
Hypochondroplasia
FGFR3 mutation analysis
Intellectual Disability
ARX sequencing
SYNGAP1 sequencing
Kallmann syndrome
CHD7 sequencing
Neurofibromatosis 1-like phenotype
SPRED1 sequencing
SPRED1 deletion/duplication
Noonan syndrome
PTPN11 sequencing
SOS1 sequencing
KRAS sequencing
RAF1 sequencing
Osteogenesis Imperfecta (OI)
COL1A1 sequencing
COL1A2 sequencing
BRAIN MALFORMATION
DISORDERS
Doublecortin / X-linked
Lissencephaly
DCX sequencing and
deletion/duplication
FLNA-Related Disorders
Melnick-Needles syndrome
(mutation analysis of exon 22)
Otopalatodigital spectrum disorders
(sequencing of exons 3-5 only)
Otopalatodigital spectrum disorders
(full sequencing and
deletion/duplication)
Periventricular nodular heterotopia
(sequencing and
deletion/duplication
HOXA1-Related Disorders
HOXA1 sequencing
Polymicrogyria, Bilateral
Frontoparietal
GPR56 sequencing
EYE DISORDERS
Congenital Fibrosis of Extraocular
Muscles
KIF21A sequencing
PHOX2A sequencing
TUBB3 sequencing
Duane syndrome
CHN1 sequencing
Familial Horizontal Gaze Palsy w/
Progressive Scoliosis
ROBO3 sequencing
SALL-4 Related Disorders
SALL4 sequencing
Prader-Willi syndrome (see Angelman)
PTEN Related Disorders [PTEN]
PTEN sequencing & deletion/duplication
Rett syndrome [MECP2]
MECP2 sequencing
MECP2 deletion/duplication
Smith-Lemli-Opitz syndrome [DHCR7]
DHCR7 sequencing
Sotos syndrome
NSD1 sequencing
NSD1 deletion/duplication
Xeroderma Pigmentosum (XP)
XP type A sequencing (XPA)
XP type C sequencing (XPC)
HEARING LOSS
Mitochondrial DNA Hearing Loss
12S rRNA mutations
(aminoglycoside ototoxicity)
tRNA-Leu mutations
tRNA-Lys mutations
tRNA-Ser mutations
Pendred syndrome
SLC26A4 sequencing
Sensorineural Hearing Loss
GJB2 (Connexin 26) sequencing
GJB6 (Connexin 30) deletion
Patient Name
HEMATOLOGICAL DISORDERS
Congenital Neutropenia
ELANE sequencing
HAX1 sequencing
Diamond-Blackfan Anemia (DBA):
RPS19 sequencing
RPS24 sequencing
RPL5 sequencing
RPL11 sequencing
Factor XIII Deficiency
F13A1 sequencing
F13B sequencing
Hypercoagulability
Factor II Prothrombin mutation [G20210A]
Factor V Leiden mutation [R506Q]
MTHFR Thermolabile Variant [c.677C>T]
Iron-Refractory Iron Deficiency Anemia
TMPRSS6 sequencing
Shwachman-Diamond syndrome
SBDS sequencing
MITOCHONDRIAL DISORDERS
Mitochondrial MELAS syndrome
Mitochondrial MERRF syndrome
NEUROMUSCULAR DISORDERS
Charcot-Marie-Tooth 1A/HNPP
PMP22 deletion/duplication
Duchenne/Becker muscular dystrophy
DMD deletion/duplication
Muscular Dystrophy Sequencing Panel
Next generation sequencing of CAPN3,
CAV3, DMD, FKRP, LMNA, SCGA,
SCGB, SCGD, SCGG, TRIM32
**Clinical questionnaire must
accompany sample**
Spinal Muscular Atrophy [SMA]
SMN1 exon 7 deletion/duplication
PHARMACOGENOMIC TESTING
Thiopurine methyltransferase
TPMT haplotype analysis
SPECIAL DNA TESTING
GATA1 sequencing (blood)
GATA1 sequencing (bone marrow)
Y chromosome sequence detection
DOB
DELETION/DUPLICATION
SYNDROMES
SPECIFIC MUTATION
CONFIRMATION [SMC]
Genomic deletion/ duplication and
absence of heterozygosity testing by
CGH/SNP array
If testing the family member of an
individual whose test was
performed at this laboratory, the
following information is required:
Chromosomal microarray analysis
Proband
Please check all that apply:
Personal/family history of
chromosomal rearrangement
(provide details)
Gene name:
Mutation(s):
Name of Proband (individual tested in
laboratory):
Proband MRN:
Relationship to Proband:
Marker chromosome (provide
details of karyotype)
Known cytogenetic imbalance
(provide details of karyotype)
For CLIA confirmation of a
research finding, the following
information is required:
Gene name:
Family Member
Name of Proband (individual tested
in laboratory):
Mutation(s) in HGVS nomenclature:
NM# used for mutation analysis:
Proband MRN:
Relationship to Proband:
Genomic deletion/ duplication testing by
MLPA
1p36 deletion syndrome
1q21.1 deletion/duplication syndrome
15q13.2-q13.3 deletion syndrome
16p11.2 deletion/duplication syndrome
17q12 deletion syndrome [RCAD]
17q21 microdeletion syndrome
Alagille syndrome [JAG1]
Charcot-Marie-Tooth type 1A [PMP22]
Cri du Chat syndrome [5p-]
Down syndrome critical region [+21]
Hereditary Neuropathy and Liability to
Pressure Palsies [PMP22]
Langer-Giedion syndrome [EXT1]
Miller-Dieker syndrome [LIS1]
Neurofibromatosis-1/NF1 deletion [NF1]
Neurofibromatosis-2/NF2 deletion [NF2]
Pitt Hopkins syndrome
Rubinstein-Taybi syndrome [CREBBP]
Saethre-Chotzen syndrome [TWIST]
Sotos syndrome [NSD1]
Smith-Magenis syndrome
VCFS/DiGeorge/ 22q11 deletion[VCFS1]
VCFS/DGS-like/ 10p13 deletion [VCFS2]
WAGR (Wilms-aniridia) [PAX6,WT1]
William-Beuren syndrome [ELN]
Wolf-Hirschhorn syndrome [4p-]
Protocol used (ex for Sanger, forward
primer sequence, reverse primer
sequence, PCR material and
condition):
AND any/all of the following for QC
purposes (in decreasing order of
preference):
1. Positive DNA control
2. ab1 files
3. Screenshot of the mutation and the
surrounding bases