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Prenatal Cystic Fibrosis Mutation Analysis

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms	CFFETUS prenatal CF
Cerner Primary Mnemonic	CFFETUS
EPIC Display Name	Prenatal Cystic Fibrosis Mutation Analysis
Allscripts (AEHR) Order Name	Cystic Fibrosis DNA Analysis, Fetus
Sunrise Clinical Manager (SCM) Order Name	Cystic Fibrosis DNA Analysis, Fetus
EPIC Inpatient Orderable	No
EPIC Outpatient Orderable	No
Cerner Results	Race AOE Cystic Fibrosis DNA, Fetus
Clinical Info	Cystic fibrosis (CF) is the most common recessive lethal genetic disorder affecting primarily Caucasians of Northern European descent. This test is appropriate to determine if the fetus has inherited known mutations, limited to the general cystic fibrosis mutation panel, from both parents.
Specimen Type
Container	Sterile
Collection Instructions	Container/Tube: Sterile leak-proof container Specimen: 20 mL amniotic fluid (10mL min) or 10 mg chorionic villi Transport Temperature: Room Temperature Stability: 48 hours Room Temperature Unacceptable refrigerated or Frozen Collection Instructions Please indicate the ethnicity of the patient. For prenatal diagnosis with a fetal specimen: 1) parents must be documented carriers of one of the mutations tested; 2) maternal blood or DNA must be available to rule out maternal cell contamination 3) contact the laboratory genetic counselor before submission. Amniotic Fluid: Normal collection procedure. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze. Amniocyte culture: (x2) sterile T25 flasks, filled with culture medium. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze. Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube filled with sterile culture medium or (x2) sterile T25 flasks. Specimen stability is crucial. Store and ship ambient immediately. Do not refrigerate or freeze. It is recommended that Maternal Cell Contamination (MCC) Studies be sent with this test. Please submit 5 mL maternal blood in an EDTA (lavender-top) tube. Contact the laboratory genetic counselor before submission.
Transport Instructions	Room Temperature
Specimen Stability	48 hours Room Temperature Unacceptable refrigerated or Frozen Collection Instructions Please indicate the ethnicity of the patient. For prenatal diagnosis with a fetal
Methodology	Multiplex Polymerase Chain Reaction • Massively Parallel Sequencing The analytical performance characteristics of this assay have been determined by Quest Diagnostics Nichols Institute Chantilly, VA. The modifications have not been cleared or approved by the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Days Performed	Sunday - Saturday 8 Day TAT
Performing Laboratory	Quest Diagnostics' Nichols Institute, Inc. - Chantilly
CPT	81200 88235 Loinc Code: 34718-7
PDM	1959233

Desired Epic Build Prenatal Cystic Fibrosis Mutation Analysis

Cerner Primary Mnemonic:

CFFETUS

PDM

1959233

Informatics - Workgroup

Molecular-send outs

Synonyms *

CFFETUS
prenatal CF

Display Name *

Prenatal Cystic Fibrosis Mutation Analysis

Order Entry Specimen Sources *

Order Entry Specimen Types

Amniotic Fluid

Specimen Navigator Specimen Types

Specimen Navigator Specimen Sources

Specimen Navigator Short Name

Ordering info (EPIC SmartText)

Cystic fibrosis (CF) is the most common recessive lethal genetic disorder affecting primarily Caucasians of Northern European descent. This test is appropriate to determine if the fetus has inherited known mutations, limited to the general cystic fibrosis mutation panel, from both parents.

IP Orderable

OP Orderable

AOEs *

AP AOEs

Special History

Build Comments

Filter *

genetics

Procedure Category Change

Cerner Results

Result Desc	Result display	Result PDM
Race AOE	Race AOE	1759837A
CFFETUS	Cystic Fibrosis DNA, Fetus	1959233A

Current Actual EPIC Build as of 10/28/2024

Procedure Id

115571

Pdm

1959233

Order Display Name

Prenatal Cystic Fibrosis Mutation Analysis

Procedure Name

CYSTIC FIBROSIS DNA ANALYSIS, FETUS

Procedure Master Number

LAB11628

Short Procedure Name

CYSTIC FIBROSIS DNA ANALYSIS, FETUS

Category Code

15.0

Category Code Record Name

LAB CYTOGENETICS ORDERABLES

Synonyms

CFFETUS PRENATAL CF

Clinically Active

Orderable

Performable

Filter Genomics

Generic Genomics Procedure

Reference Link Url

https://labs.northwell.edu/epic/test/115571

Ordering Instructions

Default Specimen Type

Amniotic Fluid

Specimen Type Pick List

Amniotic Fluid

Specimen Type List

Op Specimen Type List

Specimen Source Pick List

Amniotic Sac

Specimen Source Default - Male

Specimen Source Default - Female

Specimen Source List

Op Specimen Source List

Ip Lab Test Components For Report

Op Lab Test Components For Report

Order Questions

["3048500000"]

Order Questions Record Name

Inpatient Order Questions

["3048500000"]

Inpatient Order Questions Record Name

Order Specific Question Override

Inpatient Question Override

Location Restrict List Ip

Location Restrict List Ip Record Name

Location Restrict List Include Ip

Location Restrict List Op

Location Restrict List Op Record Name

Location Restrict List Includes Op

Edp Amb Order Specific Questions Record Name

NH IP PATIENT COMPLETED CONSENT

Edp Ip Order Specific Questions Record Name

NH IP PATIENT COMPLETED CONSENT

Edp Ip Specimen Source

Edp Op Specimen Source

Edp Ip Specimen Type

Edp Op Specimen Type

Derived Edp Ip Buttons S

Derived Edp Ip Buttons T

Derived Edp Op Buttons S

Derived Edp Op Buttons T

Ip Orderable

Op Orderable

EPIC OP AOEs

Question ID	Question Name	Question	Response Type	Response List	Require Response
3048500000	NH IP PATIENT COMPLETED CONSENT	Patient completed consent?	Yes/No		Yes

EPIC IP AOEs

Question ID	Question Name	Question	Response Type	Response List	Require Response
3048500000	NH IP PATIENT COMPLETED CONSENT	Patient completed consent?	Yes/No		Yes

EPIC Components (results)

Component ID	Component Name	Base Name	Common Name	External Name	Cerner Result PDM
3047804421	RACE AOE	RACEAOE	RACE AOE		1759837A
3047802092	CYSTIC FIBROSIS DNA, FETUS	CYSTICFIBRO	CYSTIC FIBROSIS DNA, FETUS		1959233A

EPIC Test Compendium Alpha Welcome to the new Northwell Health Labs Test Directory, please call our Client Services Department at 1-800-472-5757 with any typos, corrections or issues.

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Prenatal Cystic Fibrosis Mutation Analysis

Test Catalog Information

Desired Epic Build Prenatal Cystic Fibrosis Mutation Analysis

Current Actual EPIC Build as of 10/28/2024

EPIC Test Compendium Alpha
Welcome to the new Northwell Health Labs Test Directory, please call our Client Services Department at 1-800-472-5757 with any typos, corrections or issues.