Prenatal Core Carrier Screening Panel

General Information

Lab Name

Lab Code

PCCSP

Epic Ordering

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)
RSMACN	SMA Copy Number Analysis
RSMAPL	SMA Performing Lab
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

Interpretation

Method: Testing for carrier status for Spinal Muscular Atrophy, Cystic Fibrosis, thalassemia and hemoglobinopathies (see HBTHAL or HBTHLI full descriptions). If clinically indicated based on thalassemia/hemoglobinopathy testing, samples will reflex to alpha globin deletion testing (PCR-based deletion analysis), Alpha globin gene sequencing, and/or Beta globin gene sequencing (see AGGA, HASEQ, HBSEQ full descriptions).
Reference Range: See individual components
Interferences and Limitations: see individual components
References: see individual components

Ordering & Collection

Specimen Type: see individual components
Collection: see individual components
Handling Instructions: see individual components
Quantity: requested: see individual components
minimum: see individual components

Processing

Processing: CBC: See CBC processing.

HBTHCS: See HBTHAL processing.

CFDNA: See CFDNA processing.

RSMACT: See RSMACT processing.

Performance

LIS Dept Code

Performing Location(s)

HMC	Red Cell Disorders 206-520-4600 325 9th Ave, Rm # GWH-47, Seattle, WA 98104-2420
UW-MT	Genetics Attention: Genetics Lab Clinical lab, Room NW220 University of Washington Medical Center 1959 NE Pacific Street Seattle, WA 98195 Tel: 206-598–6429 M–F (7:30 AM–4:00 PM) Fax: 206-598–0304 Lab email: cgateam@uw.edu Tel (EXOME only): 206-543-0459	Manager Joe Bernal Genetic Counselors Angela Jacobson, MS, LGC Sandra Coe, MS,LGC Dru Leistritz, MS, LGC(EXOME testing only) Variant Review Scientist Ankita Jhuraney, PhD Sarah Paolucci, MA, MS, LGC Catherine A. Darcey, MSc Daniel W. Serber, PhD, MS, LCGC Faculty Jillian Buchan, PhD, FACMG Runjun Kumar, MD, PhD Christina Lockwood, PhD, DABCC, DABMGG Brian Shirts, MD, PhD Abbye McEwen, MD, PhD Colin Pritchard, MD, PhD Vera Paulson, MD, PhD Eric Konnick, MD, MS He Fang, PhD

Frequency

Monday-Friday

Available STAT?

Billing & Coding

CPT codes: 81220, 81329, 83020x2, 83021, 85027
LOINC: 26436-6