34 30516r1.0 ultrasound anomalies 011216 - sequenom · pdf file* nextview® fish rapid...

2
34-30516R1.0 0116 INVASIVE DIAGNOSTIC TEST MENU * NextView ® Array microarray analysis on CVS or amniotic fluid (culturing may be required) * Targeted * Whole genome If array normal, reflex to karyotype? * Yes * No * NextView ® Karyotype on CVS or amniotic fluid (culturing may be required) If karyotype normal, reflex to array (on cultured cells)? * Yes * No If yes: * Targeted * Whole genome * NextView ® FISH rapid detection of abnormalities of chromosomes 13, 18, 21, X, Y * NextView ® AF-AFP amniotic fluid AFP with reflex to AChE * NextView ® MCC maternal cell contamination studies ICD10 code Required: CARRIER SCREENING TEST MENU select only one OR HerediT ® CF Cystic fibrosis carrier screen test REQUIRED CLINICAL INFORMATION Ancestry: Family history of genetic condition? * Request patient genetic counseling services for selected test HerediT ® UNIVERSAL Pan-ethnic carrier screen test (see reverse for details) * Complete panel * Standard panel * Jewish ancestry panel * Ashkenazi Jewish * African American * Other Jewish * Hispanic * East Asian * Caucasian * Carrier of (genetic disease + mutation if known) * Southeast Asian * Other: * Yes (indicate relative and disease): * Sibling * Niece / Nephew Relative is: * Affected * Parent * Cousin * Aunt / Uncle * Grandparent * Other: Partner name: DOB: / / Barcode: MEDICAL INDICATION FOR TESTING Select one or more ICD10 codes Procreative mgmt Pregnancy mgmt Other ICD10 code: * Z34.93 3 rd tri * Z31.440 male * Z34.92 2 nd tri * Z31.430 female * Z34.91 1 st tri Partner tested? * Yes COMMENTS REQUIRED CLINICAL INFORMATION MaterniT ® GENOME Genome-wide fetal aneuploidies (singleton only) *ESS = chr 16, chr 22, and select microdeletions **SCA = sex chromosome aneuploidies VisibiliT Risk assessment for fetal aneuploidies for chromosomes 21 & 18, and fetal sex (singleton only) OR OR MEDICAL INDICATION FOR TESTING Select one or more ICD10 codes Abnormal serum biochemical screening: Ultrasound finding: (specify type[s] from reverse in Comments below) Other risk factor: ICD10 code: * Request patient genetic counseling services for selected test High risk for fetal chromosomal aneuploidies Maternal age: Primigravida Multigravida Personal family history: (specify type in Comments below) Prior pregnancy with trisomy Robertsonian translocation MaterniT21 ® PLUS Select fetal aneuploidies * Core (chr 21, 18, 13, sex) * Core + ESS* * Core + SCA** * Core + ESS + SCA Gestational age: weeks days or EDD: / / Gestation: * Singleton * Twins * Triplets * Other: Maternal height: ft. in. Maternal weight: lbs. * O09.511 1 st tri * O09.521 1 st tri * O09.512 2 nd tri * O09.522 2 nd tri * O09.513 3 rd tri * O09.523 3 rd tri * O28.1 * O35.1XX0 * O09.291 1 st tri * Q95.0 * O09.292 2 nd tri * Q95.1 * O09.293 3 rd tri NONINVASIVE PRENATAL TEST (NIPT) MENU – select only one No known high risk for fetal chromosomal aneuploidies (MaterniT21 PLUS or VisibiliT only) * Z34.92 2 nd tri * Z34.91 1 st tri * Z34.93 3 rd tri * Other ICD10 code: CLINICIAN INFORMATION ADDITIONAL COPY OF RESULTS (optional) Sequenom lab account #: Account name: Account address: City / State / ZIP: Ordering clinician: NPI #: Phone: ( ) - Fax: ( ) - Referring clinician: Fax: ( ) - BILLING INFORMATION Attach copy of both sides of insurance card if applicable Bill: * Patient (self pay) * Insurance (direct bill) * Client bill Policyholder name: Relationship to patient: * Self * Spouse * Child * Other: Policyholder date of birth: / / Insurance company name: Billing address: City / State / ZIP: Policy / Medicaid #: Group #: Authorization #: No out-of-pocket costs for covered services for Medicaid patients PATIENT INFORMATION AND ACKNOWLEDGEMENT & PHYSICIAN ACKNOWLEDGEMENT Last name: First name: DOB: / / Sex: * Male * Female Street address: City / State / ZIP: Phone: ( ) - Email: MRN (optional): I understand that my health care provider may ask Sequenom Laboratories to provide a genetic counseling session. My health care provider has informed me about the test(s) requested on this form and the availability of genetic counseling. If the Insurance box is marked in the Billing Information section, I authorize Sequenom Laboratories to share with my designated insurance carrier the information on this form, my test results and other information requested by my carrier for coverage. I authorize payment of my insurance benefits to Sequenom Laboratories. If insurance payment is sent to me, I will promptly endorse and forward the payment to Sequenom Laboratories. If applicable, I authorize Sequenom Laboratories to appeal any coverage denial made by my carrier on my behalf. This test will not be covered if it falls outside of my insurance carrier’s medical and coverage guidelines. I understand that if the test is not a covered benefit, I will be responsible for payment estimated at $200. If the Patient (self pay) box is marked in the Billing Information section, I accept full financial responsibility for payment of a cash price up to $995. Sequenom Laboratories is required by law to maintain the privacy and security of your protected health information in accordance with our Notice of Privacy Practices (www.sequenom.com/notice-patient-privacy-practices). Patient’s signature: Date: / / Physician’s signature: Date: / / 877.821.7266 Mon–Fri 5am–5pm PST 3595 John Hopkins Ct San Diego, CA 92121 CLIA# 05D2015356 CAP# 7527138 7010 Kit Creek Rd Morrisville, NC 27560 CLIA# 34D2044309 CAP# 8666040 PRENATAL TEST REQUISITION FORM PLACE BARCODED PATIENT ID LABEL HERE Sample collection date: / /

Upload: vantuong

Post on 16-Feb-2018

217 views

Category:

Documents


1 download

TRANSCRIPT

Page 1: 34 30516R1.0 ultrasound anomalies 011216 - Sequenom · PDF file* NextView® FISH rapid detection of abnormalities of ... or ventral wall defects. cfDNA testing for whole chromosome

34-30516R

1.0 0

116

INVASIVE DIAGNOSTIC TEST MENU

* NextView® Array microarray analysis on CVS or amniotic fluid (culturing may be required)

* Targeted * Whole genome If array normal, reflex to karyotype? * Yes * No

* NextView® Karyotype on CVS or amniotic fluid (culturing may be required)

If karyotype normal, reflex to array (on cultured cells)? * Yes * No

If yes: * Targeted * Whole genome

* NextView® FISH rapid detection of abnormalities of chromosomes 13, 18, 21, X, Y

* NextView® AF-AFP amniotic fluid AFP with reflex to AChE

* NextView® MCC maternal cell contamination studies

ICD10 code Required:

CARRIER SCREENING TEST MENU – select only one

OR

HerediT® CFCystic fibrosiscarrier screen test

REQUIRED CLINICAL INFORMATION

Ancestry:

Family history of genetic condition?

* Request patient genetic counseling services for selected test

HerediT® UNIVERSALPan-ethnic carrier screen test(see reverse for details)* Complete panel* Standard panel* Jewish ancestry panel

* Ashkenazi Jewish* African American

* Other Jewish* Hispanic

* East Asian* Caucasian

* Carrier of (genetic disease + mutation if known)

* Southeast Asian* Other:

* Yes (indicate relative and disease): * Sibling* Niece / Nephew

Relative is: * A�ected

* Parent* Cousin

* Aunt / Uncle* Grandparent* Other:

Partner name: DOB: / / Barcode:

MEDICAL INDICATION FOR TESTING Select one or more ICD10 codes

Procreative mgmtPregnancy mgmtOther ICD10 code:

* Z34.93 3rd tri* Z31.440 male* Z34.92 2nd tri

* Z31.430 female* Z34.91 1st tri

Partner tested? * Yes

COMMENTS

REQUIRED CLINICAL INFORMATION

MaterniT® GENOMEGenome-wide fetal aneuploidies(singleton only)

*ESS = chr 16, chr 22, and select microdeletions **SCA = sex chromosome aneuploidies

VisibiliT™

Risk assessment for fetal aneuploidies for chromosomes 21 & 18, and fetal sex(singleton only)

OR OR

MEDICAL INDICATION FOR TESTING Select one or more ICD10 codes

Abnormal serum biochemical screening:

Ultrasound finding: (specify type[s] from reverse in Comments below)

Other risk factor: ICD10 code:

* Request patient genetic counseling services for selected test

High risk for fetal chromosomal aneuploidiesMaternal age: Primigravida

Multigravida

Personal family history: (specify type in Comments below)Prior pregnancy with trisomy

Robertsonian translocation

MaterniT21® PLUSSelect fetal aneuploidies* Core (chr 21, 18, 13, sex)* Core + ESS** Core + SCA*** Core + ESS + SCA

Gestational age: weeks days or EDD: / /

Gestation: * Singleton * Twins * Triplets * Other:

Maternal height: ft. in. Maternal weight: lbs.

* O09.511 1st tri* O09.521 1st tri

* O09.512 2nd tri* O09.522 2nd tri

* O09.513 3rd tri* O09.523 3rd tri

* O28.1

* O35.1XX0

* O09.291 1st tri* Q95.0

* O09.292 2nd tri* Q95.1

* O09.293 3rd tri

NONINVASIVE PRENATAL TEST (NIPT) MENU – select only one

No known high risk for fetal chromosomal aneuploidies (MaterniT21 PLUS or VisibiliT only)

* Z34.92 2nd tri* Z34.91 1st tri * Z34.93 3rd tri * Other ICD10 code:

CLINICIAN INFORMATION

ADDITIONAL COPY OF RESULTS (optional)

Sequenom lab account #:

Account name:

Account address:

City / State / ZIP:

Ordering clinician: NPI #:

Phone: ( ) - Fax: ( ) -

Referring clinician: Fax: ( ) -

BILLING INFORMATION Attach copy of both sides of insurance card if applicable

Bill: * Patient (self pay) * Insurance (direct bill) * Client bill

Policyholder name:

Relationship to patient: * Self * Spouse * Child * Other:

Policyholder date of birth: / /

Insurance company name:

Billing address:

City / State / ZIP:

Policy / Medicaid #: Group #:

Authorization #: No out-of-pocket costs for covered services for Medicaid patients

PATIENT INFORMATION AND ACKNOWLEDGEMENT & PHYSICIAN ACKNOWLEDGEMENT

Last name: First name: DOB: / / Sex: * Male * Female

Street address: City / State / ZIP:

Phone: ( ) - Email: MRN (optional):

I understand that my health care provider may ask Sequenom Laboratories to provide a genetic counseling session. My health care provider has informed me about the test(s) requested on this form and the availability of genetic counseling. If the Insurance box is marked in the Billing Information section, I authorize Sequenom Laboratories to share with my designated insurance carrier the information on this form, my test results and other information requested by my carrier for coverage. I authorize payment of my insurance benefits to Sequenom Laboratories. If insurance payment is sent to me, I will promptly endorse and forward the payment to Sequenom Laboratories. If applicable, I authorize Sequenom Laboratories to appeal any coverage denial made by my carrier on my behalf. This test will not be covered if it falls outside of my insurance carrier’s medical and coverage guidelines. I understand that if the test is not a covered benefit, I will be responsible for payment estimated at $200. If the Patient (self pay) box is marked in the Billing Information section, I accept full financial responsibility for payment of a cash price up to $995. Sequenom Laboratories is required by law to maintain the privacy and security of your protected health information in accordance with our Notice of Privacy Practices (www.sequenom.com/notice-patient-privacy-practices).

Patient’s signature: Date: / / Physician’s signature: Date: / /

877.821.7266Mon–Fri 5am–5pm PST

3595 John Hopkins CtSan Diego, CA 92121CLIA# 05D2015356CAP# 7527138

7010 Kit Creek RdMorrisville, NC 27560CLIA# 34D2044309CAP# 8666040

PRENATAL TEST REQUISITION FORM

PLACE BARCODEDPATIENT IDLABEL HERE

Sample collection date: / /

Page 2: 34 30516R1.0 ultrasound anomalies 011216 - Sequenom · PDF file* NextView® FISH rapid detection of abnormalities of ... or ventral wall defects. cfDNA testing for whole chromosome

HEREDIT® UNIVERSAL CARRIER SCREEN PANEL DESCRIPTIONS

Complete panel Over 250 genetic disorders. Please visit https://www.recombine.com/diseases for a complete list of diseases.

Standard panel 18 genetic disorders recommended by ACOG/ACMG (cystic fibrosis, spinal muscular atrophy, α/β thalassemia, sickle cell disease, etc.)

Jewish ancestry panel Over 50 genetic disorders known to be associated with Ashkenazi, Sephardic, or Mizrahi populations.

MATERNIT21®

The core MaterniT21 PLUS test includes T21, T18, T13 and fetal sex.

On the other side of this form, please select any opt-in option:

SEX CHROMOSOME ANEUPLOIDIES OPTION: Includes sex chromosome aneuploidies. See list in column three.*

Includes T22, T16, and selected microdeletions (Enhanced Sequencing

Series). See list in column four.*

* Reported as Additional Findings

ADDITIONAL INFORMATION

The MaterniT21 PLUS, MaterniT GENOME, VisibiliT and HerediT CF Carrier Screen tests are laboratory-developed tests that were validated under Federal CLIA laboratory guidelines by Sequenom Laboratories, a wholly owned subsidiary of Sequenom, Inc. HerediT Universal Carrier Screen tests are laboratory-developed tests that were validated under Federal CLIA laboratory guidelines by Reprogenetics. Results are reported by Recombine and available through contract with Sequenom Laboratories. The NextView prenatal individual options for amniocentesis and CVS analysis are laboratory-developed tests that were validated under Federal CLIA laboratory guidelines by CombiMatrix, a CLIA-certified laboratory and available through contract with Sequenom Laboratories. SEQUENOM®, HerediT®, HerediT® UNIVERSAL, MaterniT21® PLUS, MaterniT® GENOME, NextView®, VisibiliT™ and Sequenom Laboratories™, are trademarks of Sequenom, Inc. All other trademarks and service marks are the property of their respective owners. © 2015 Sequenom Laboratories. All rights reserved.

MATERNIT21 PLUS TEST

Trisomy 21 (Down syndrome)

Trisomy 18 (Edwards syndrome)

Trisomy 13 (Patau syndrome)

Fetal sex

SEX CHROMOSOME ANEUPLOIDIES*45,X (Turner syndrome)

47,XXY (Klinefelter syndrome)

47,XXX (Triple X syndrome)

47,XYY (XYY syndrome)

*

22q (DiGeorge syndrome)

5p (Cri-du-chat syndrome)

1p36 deletion syndrome

15q (Angelman/Prader-Willi syndromes)

11q (Jacobsen syndrome)

8q (Langer-Giedion syndrome)

4p (Wolf-Hirschhorn syndrome)

Trisomy 22

Trisomy 16

LIMITATIONS OF THE TESTS

NONINVASIVE PRENATAL TESTS: MATERNIT21 PLUS, MATERNIT GENOME, VISIBILIT - While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal organ transplant; or other causes. Cell-free DNA (cfDNA) testing does not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. A patient with a positive or high risk score test result should be referred for genetic counseling and

tests are not intended to identify pregnancies at risk for neural tube defects or ventral wall defects. cfDNA testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential discovery of both fetal and maternal genomic abnormalities that could have minor or no clinical significance. Evaluating the significance of a positive or non-reportable test result may involve both invasive prenatal testing and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant maternal neoplasms. cfDNA testing may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis with CVS or amniocentesis. The ability to report results may be impacted by maternal Body Mass Index (BMI), maternal weight, and/or maternal systemic lupus erythematosus (SLE). The results of this testing, including the benefits and limitations, should be discussed with a qualified health care provider. Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of this test alone.

CARRIER SCREENS: HEREDIT CF AND UNIVERSAL - While results of this testing are highly accurate, a negative test significantly reduces, but does not eliminate, the chance of being a carrier. A patient with a positive test result should be referred for genetic counseling and further evaluation.

- Genetic counseling, clinical correlation and parental testing are recommended.

ALL TESTS - The health care provider is responsible for the use of this information in the management of their patient.

ULTRASOUND ANOMALIES

ABDOMENAbsent stomach Ascites/anasarca/edema Diaphragmatic hernia Dilated stomachDuodenal obstructionGastroschisisOmphalocele

AMNIOTIC FLUID VOLUMEOligohydramnios Polyhydramnios

CENTRAL NERVOUS SYSTEMAcraniaAgenesis of corpus callosum Anencephaly Arnold chiari malformationCerebellar hypoplasia Dandy walker Dolichocephaly HoloprosencephalyHydrocephalus Meckel gruberMega cisterna magna Neural tube defectSpina bifidaVentriculomegaly

FACEAbsent nasal boneCleft lipCleft palate Micrognathia

HEART/LUNGAbnormal outflow tracts Aortic valve stenosis Atrial septal defect (asd) CardiomegalyChest mass (ccam, sequestration)Coarctation of aortaCystic adenomatous malformation of the lung (CAM)DextrocardiaEbstein anomaly Endocardial cushion defect/a-v canalEnlarged atrium Hypoplastic left hearthypoplastic right ventricle Pentalogy of cantrell Pericardial e�usionPleural e�usionPulmonary valve atresia/stenosis Tetralogy of fallotTotal anomalous pulmonary venous returnTransposition of the great vessels Tricuspid regurgitationTricuspid valve atresia/stenosis Truncus arteriosusVentricular septal defect (vsd)

KIDNEY/URINARY BLADDER/PELVISAbsent bladderAbsent kidney Echogenic kidneysEnlarged kidneys HydronephrosisMulticystic dysplastic kidneys Pelvic cystsPotter syndrome Renal cysts

NECKCystic hygroma Enlarged nuchal translucency (first trimester)Enlarged nuchal fold (second trimester)

PLACENTA Placental anomaly (specify)

SIZE/GROWTH/OVERALL APPEARANCEHydrops fetalisIntrauterine growth retardation (iugr)Macrosomia

SKELETAL SYSTEMArthrogryposis multiplex congenitaCaudal regressionClinodactylyClubfeetPolydactylyScoliosisShort femurs

OTHER (specify):