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JOHNS HOPKINS ALL CHILDREN's HOSPITAL Molecular Genetics Test Requisition

JOHNS HOPKINS ALL CHILDREN's HOSPITAL Molecular Genetics Test Requisition

Shipping Address: JOHNS HOPKINS ALL CHILDREN’S HOSPITAL 601 Fifth Street South Molecular Genetics Test Requisition OCC 4th Floor St. Petersburg, FL 33701

Patient Information *Two of these identifiers must appear on the sample *Name (Last) (First)

*Date of Birth (mm/dd/yyyy) Sex Ethnicity

*Patient ID/Sample Number

Referrer Information Ordering Physician Contact Person Name

Institution Name Address

Phone Fax

Send/Fax a copy of the report to: Name/Institution

Address

Phone Fax

Payment (Institutional bill) JHACH Client #

Hospital/Lab Name

Contact Name

Address City State Zip Code

Phone Fax

Sample Type (Mark one entry below) Date Collected: ______ Whole Blood  Bone Marrow  Other: ______ DNA, isolated in CLIA certified laboratory ONLY, Tissue source: ______, Isolation method: ______. Not available for all tests, contact the laboratory for additional details. The laboratory does not accept purified DNA that has been isolated or processed in a research laboratory. For peripheral blood specimens: 0.5-2.0 mL in EDTA (lavender top) tube; ship at room temperature to address above.

Reason for Test (Mark one entry below): Diagnosis Code (ICD-10): ______ Diagnostic/confirmatory  Identification  Targeted familial mutation  Carrier  Presymptomatic  Other: ______Clinical Description, attach additional pages/pedigree if needed. Include symptoms/phenotype and previous significant lab testing results: ______

For Internal/Molecular Genetics Lab Use Only Accession# Date Received Initials Notes:

Phone: 727-767-8985 Fax: 727-767-8367 Email: [email protected] https://www.hopkinsallchildrens.org/moleculargenetics

Scan to: View Images >> Out Patient Test Order JHACH# 6500001503-1 Molecular Genetics Test Requisition 06/26/2018 Page 1 of 2

Shipping Address: JOHNS HOPKINS ALL CHILDREN’S HOSPITAL 601 Fifth Street South Molecular Genetics Test Requisition OCC 4th Floor St. Petersburg, FL 33701

Patient Name: ______Patient’s DOB: ______

Test(s) Requested / Deficiency  FGFR3 G380R (c.1138G>A, c.1138G>C)  MC2R full sequencing  MC4R full gene sequencing  FGFR3 N540K (c.1620C>A, c.1620C>G) Hemochromatosis PTEN-related disorders  HFE targeted sequencing, C282Y & H63D  PTEN full gene sequencing  TBX19 full gene sequencing Huntington Disease  PTEN deletion/duplication Adrenal Hypoplasia  HTT CAG repeat expansion Prader-Willi syndrome  NR0B1 full gene sequencing (Contact the laboratory for approval)  SNRPN methylation, del/dup Agammaglobulinemia, X-linked Inherited Coagulation factors Rett syndrome  BTK full gene sequencing  F2 c.*97G>A (aka 20210G>A)  MECP2 full gene sequencing Insensitivity syndrome  F5 Leiden variant  MECP2 deletion/duplication  AR full gene sequencing  MTHFR (c.665C>T and c.1286A>C)  MECP2 sequencing, Reflex to del/dup Angelman syndrome Russel-Silver syndrome  SNRPN methylation, del/dup  GHR full gene sequencing  H19/KCNQOT1 methylation  UBE3A full gene sequencing Legius Syndrome Septo-optic dysplasia 5-alpha reductase deficiency  SPRED1 full gene sequencing  HESX1 full gene sequencing  SRD5A2 full gene sequencing  SPRED1 deletion/duplication Spinal Muscular Atrophy Beckwith-Wiedemann syndrome  SPRED1 sequencing, Reflex to del/dup  SMN1/SMN2, exons 7-8 copy number  H19/KCNQOT1 methylation Male precocious / hypoplasia STR genotype analysis Charcot-Marie-Tooth (CMT)  LHCGR full gene sequencing  Donor/Recipient genotyping  PMP22 full gene sequencing (CMT1E) Marfan Syndrome  Post-transplant chimerism analysis  PMP22 deletion/duplication (CMT1A)  FBN1 full gene sequencing  Maternal cell contamination rule-out Combined Pituitary Deficiency  FBN1 deletion/duplication Thyroid hormone resistance  PROP1 full gene sequencing McCunne-Albright Syndrome/Fibrous Dysplasia  THRB full gene sequencing  HESX1 full gene sequencing  GNAS targeted sequencing; exons 8-9 46,XY gonadal dysgenesis (Swyer syndrome)  POU1F1 full gene sequencing Disorders of GNAS inactivation  SRY full gene sequencing Cystic Fibrosis  GNAS full gene sequencing Von Willebrand  CFTR full gene sequencing Mannose-binding lectin (MBL) deficiency  VWF targeted sequencing, exon 28  CFTR deletion/duplication  MBL2 genotyping; promoter, exon 1  Targeted familial Known mutation Hearing loss Multiple endocrine neoplasia type 2 (MEN2) (call the lab for availability, a copy of proband  GJB2 full gene sequencing (Connexin-26)  RET targeted sequencing; ex 10, 11, 16 results is required)  GJB6 deletion/duplication (Connexin-30)  RET full gene sequencing NGS multi-gene panels  GJB2 sequencing, Reflex GJB6 del/dup Myotubular Myopathy, X-linked (call the lab for availability, financial pre-  GJB6 full gene sequencing  MTM1 full gene sequencing authorization and detailed clinical description Duchenne/Becker Muscular Dystrophy Neurofibromatosis required)  DMD deletion/duplication  NF1 full gene sequencing  Arrhythmia Panel  DMD full gene sequencing  NF1 deletion/duplication  Cardiomyopathy panel  DMD del/dup, Reflex to DMD sequencing  NF1 sequencing, Reflex to del/dup  Congenital Heart Defect panel Dystonia, early-onset  NF2 full gene sequencing  Noonan/Rasopathies panel  TOR1A targeted seq (GAG del, p.E303del)  NF2 deletion/duplication  NF related panel (NF1, NF2, SPRED1) Fragile X syndrome  NF2 sequencing, Reflex to del/dup  TAAD/Marfan panel  FMR1 CGG repeat expansion Consent to genetic testing: I understand that my physician is requesting the Molecular Genetics Laboratory at Johns Hopkins All Children’s Hospital (JHACH) to perform the genetic test selected above on me/my child. The purpose and accuracy of this testing have been reviewed by my health care provider and my questions about these issues have been answered. In some cases it is necessar y to do an indirect test that does not identify a specific disease causing mutation. If I am to have an indirect test, my health care provider has discussed these issues with me. I understand that in most cases, a negative test result does not necessarily rule out a genetic condition. Results of genetic testing should be considered with the results of other types of testing and clinical evaluation. Lack of cooperation of all needed family members may compromise the quality or decrease the accuracy of the result obtained. If multiple family members are being tested, non-paternity may be disclosed by these results. No clinical tests other than those authorized will be performed; however, any remaining sample may be used for quality control purposes or research after de-identification. The laboratory cannot guarantee turn- around time or that a result will be obtained on any sample. Results will be released only to parties indicated on the test requisition or their agents. Release to other parties requires written consent of the patient. By signing below, I have read and agree to have genetic tests performed at the Molecular Genetics Laboratory at JHACH.

Signature: ______Date: ______

Printed Name: ______Time: ______Alternate Consent: I, the health care provider requesting the above testing, have explained the benefits and drawbacks of genetic testing to the patient and have obtained verbal consent or an alternate written consent (please attach) to order the above test.

Signature: ______Date: ______

Printed Name: ______Time: ______

Phone: 727-767-8985 Fax: 727-767-8367 Email: [email protected] https://www.hopkinsallchildrens.org/moleculargenetics

Scan to: View Images >> Out Patient Test Order JHACH# 6500001503-1 Molecular Genetics Test Requisition 06/26/2018 Page 2 of 2

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