Prenatal Core Carrier Screening Panel

General Information

Lab Name

Prenatal Core Carrier Screening Panel

Lab Code

PCCSP

Epic Name

Prenatal Core Carrier Screening Panel

Description

This panel is composed of the following tests:

1. Cystic fibrosis DNA screen (Lab Code: CFDNA)

2. Spinal Muscular Atrophy, Carrier Test (Sendout) Lab Code: RSMACT)

3. Hb Disorder Thalassemia Carrier Screen (Lab Code: HBTHCS) with reflex to alpha globin gene analysis (Lab Code: AGGA), &/or Alpha Hemoglobin DNA Sequence (Lab Code: HASEQ), &/or Beta Hemoglobin DNA Sequence (Lab Code: HBSEQ) if clinically indicated

4. CBC (Hemogram)

Please see the individual test components for further information.

ADVISORY: This panel is for reproductive carrier screening ONLY. For other situations, order individual tests. Do not deselect any components! CBC is required for Hemoglobinopathy/Thalassemia testing. Furthermore, if Cystic Fibrosis testing is deselected, reflex genetic testing for Hemoglobinopathies/Thalassemias will NOT be performed even if indicated.

Test codes to screen for individual conditions:

Cystic Fibrosis = CFDNA

Spinal Muscular Atrophy = RSMACT

Hemoglobinopathies/Thalassemias = HBTHLI (includes HBTHAL and CBC)

Provider Information: PCCSP handout

References

see individual components

Synonyms

ACMG, ACOG, alpha globin gene, alpha thalassemia, Alpha-globin gene analysis, Carrier screening, CF, CFTR, cystic fibrosis, Cystic fibrosis DNA screen, hemoglobin, hemoglobin electrophoresis, SMA, SMN1, spinal muscular atrophy, Spinal muscular atrophy carrier test, thalassemia, Thalassemia reflexive panel

Components

Code	Name
CBC	CBC (Hemogram)
WBC	WBC
RBC	RBC
HB	Hemoglobin
HCT	Hematocrit
MCV	MCV
MCH	MCH
MCHC	MCHC
PLT	Platelet Count
RDWCV	RDW CV
CFDNA	Cystic Fibrosis DNA Screen
CFRSLT	Cystic Fibrosis Results
CFCINF	Cystic Fibrosis Clinical Information
CFINT	Cystic Fibrosis Interpretation
CFMET	Cystic Fibrosis Methodology
CFDI	Cystic Fibrosis Director
HBTHAL	Hb Disorder Thalassemia Reflexive Panel
HBA2Q	Hemoglobin A2 Quantification by HPLC
HBF	Hemoglobin F Quant by HPLC
HBDET	Hemoglobins Detected
ZZNTRP	Thal./Hemoglobinopathy Interp.
ZZNTF	Thalassemia Screen Result
DATE1	Date Formal Report Sent
PATHF	Pathologist Consult Hb/Thal Testing
HBTHGR	Hb Disorder Thal Carrier Gen Rflx
RSMACT	Spinal Muscular Atrophy, Carrier Test (Sendout)
RSMASP	SMA Carrier Test, Specimen Type
RSMASM	SMA Carrier Test, Symptoms
RSMN1C	SMA Copy Number, SMN1 Copies
RSMN2C	SMA Copy Number, SMN2 Copies
RSMALV	SMA Copy Number, Linked Variant
RSMAIN	SMA Carrier Test, Interpretation