Ordering Recommendations

Indications for testing include:
  1. Carrier screening for couples planning a pregnancy or seeking prenatal care
  2. Carrier screening for reproductive partners of individuals who are carriers or have Cystic Fibrosis
  3. Carrier screening for gamete donors
  4. Carrier or diagnostic testing for individuals with a family history of Cystic Fibrosis
  5. Diagnostic testing for individuals with symptoms of classic Cystic Fibrosis or CFTR-related disorders

Performed

Weekly

Methodology

Illumina MiSeq 

Reported

Routine: 10 - 12 days from receipt of specimen

Synonyms

  • Cystic Fibrosis Carrier Screening
  • CF Population Carrier Screening Test
  • CF Carrier Screening
  • Cystic Fibrosis Mutation Analysis
  • Cystic Fibrosis Mutation Panel
  • CF DNA Analysis
  • CF Gene Mutation Panel
  • CF Molecular Genetic Testing
  • Cystic Fibrosis Genotyping
  • Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)
  • CFTR Gene
  • Classic CF
  • Inherited Disease
  • Clinical Genomics

Performing Lab

Clinical Genomics

Turnaround Time

After specimen receipt in the Clinical Genomics Lab, results are generally available within 12 days.

Add-on Eligibility

Yes, within 7 days of collection
*If DNA has been extracted previously for other Clinical Genomics tests, this is stored for 6 weeks and may qualify for add-on

Specimen Type

Blood

Specimen Volume

Adult: 5 mL (Minimum: 1 mL)
Pediatric: 1 mL (Minimum: 1 mL)

Collection Container

EDTA Whole Blood Tube (Lavender Top Vacutainer)

Pediatric Collection

3.0 mL EDTA Whole Blood Tube (Lavender Top Vacutainer)

Unacceptable Conditions

  1. Severely clotted or grossly hemolyzed specimens
  2. Specimens that have been improperly collected, stored, or transported
  • Specimens collected in preservatives other than EDTA
    • ACD tubes are accepted, but EDTA is preferred
  • Serum or plasma
  • Specimens that have been frozen
  • Commingled specimens
  1. Specimens in tubes that have been damaged or broken during transport
  2. Specimens with insufficient volume for testing
  3. Unlabeled or mislabeled specimens

Storage/Transport Temperature

Transport Instructions
Collection Location Transport Temperature Processing Required Timeframe
ED/Inpatient Room Temperature None Specimen must be received by the lab within 3 days of collection
Laboratory/Outpatient/Off-Site Room Temperature None Specimen must be received by the lab within 3 days of collection

Storage: Refrigerated

Stability (from collection to initiation)

Stability:
Prior to Extraction:
  • Room Temperature: 3 days
  • Refrigerated: 7 days
  • Frozen: Unacceptable
Extracted DNA:
  • Room Temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: Indefinitely

Laboratory Storage: 
  • Original Specimen: Refrigerated
  • Extracted DNA: Frozen
Laboratory Retention: 
  • Original Specimen: 1 month
  • Extracted DNA: 6 weeks

Collection Instructions

Labeling Instructions:
  1. When labeling blood tubes, leave a small window visible for the lab to assess the fill volume and sample integrity
  2. Ensure that the barcode is in the correct orientation.

Collection Instructions:
  1. Follow the correct order of draw when collecting with additional orders and tube types:
     

Reference Interval

Negative for the 171 variants analyzed.

Interpretive Data

Refer to report for result specific interpretation details.

The Cystic Fibrosis 171 Variant assay interrogates targeted regions of the CFTR gene to specifically identify any of 171 variants, 3 polymorphisms, and two intronic variants (Poly-T/TG) which are associated with cystic fibrosis (CF). The panel includes the updated list of 100 variants recommended by the American College of Medical Genetics for CF carrier screening (ACMG, 2023), as well as the variants included in the Illumina Cystic Fibrosis 139-Variant Assay, for a total of 171 variants. This assay will be used for both screening and diagnostics purposes.

List of the 171 CFTR variants (legacy nomenclature) detected by the assay.
M1VQ2XCFTRdele2,3Q39XE60XP67LR75X
G85E394delTTG91R405+1G>A406-1G>AE92KE92X
Q98XQ98R444delA457TAT>GD110HR117CR117H
Y122X574delA621+1G>T663delTG178RF191V711+1G>T
711+3A>G711+5G>A712-1G>TH199YP205SL206WL218X
Q220XV232D852del22935delAQ290X1078delTG330X
R334WI336KT338I1154insTCS341P1161delCR347H
R347PR352Q1213delT1248+1G>A1259insA1288insTAW401X (c.1202G>A)
W401X (c.1203G>A)1341+1G>A1461ins4A455EV456A1504delG1525-1G>A
S466X (c.1397C>G)S466X (c.1397C>A)L467P1548delGS489XS492FQ493X
I507delF508del1677delTAV520FC524XQ525X1716+1G>A
1717-8G>A1717-1G>AG542XS549RS549NS549RG551S
G551DQ552XR553XL558SA559TR560KR560T
1811+1G>A1811+1.6kbA>G1812-1G>AR560SA561E1824delAY569D
E585X1898+1G>A1898+3A>G1898+5G>TA613TG628R2143delT
2184delA2184insA2183AA>GR709XK710X2307insAL732X
2347delGR764XR785XR792X2585delTE822X2622+1G>A
E831XW846XR851X2711delT2789+5G>AQ890XY913X
L927PS945L3007delGG970RG970D3120G>A3120+1G>A
3121-1G>A3199del6T1036N3272-26A>GL1065PR1066CR1066H
L1077PW1089XY1092X (c.3276C>G)Y1092X (c.3276C>A)W1098CM1101KE1104X
S1118FR1158XR1162X3659delCS1196XW1204X (c.3611G>A)W1204X (c.3612G>A)
3791delC3849+5G>A3849+10kbC>TG1244E3876delAS1251NS1255X
3905insT3940delGW1282X4005+1G>A4016insTN1303KQ1313X
CFTRdele22,234209TGTT>AA4382delA    
Ordering

Ordering Recommendations

Indications for testing include:
  1. Carrier screening for couples planning a pregnancy or seeking prenatal care
  2. Carrier screening for reproductive partners of individuals who are carriers or have Cystic Fibrosis
  3. Carrier screening for gamete donors
  4. Carrier or diagnostic testing for individuals with a family history of Cystic Fibrosis
  5. Diagnostic testing for individuals with symptoms of classic Cystic Fibrosis or CFTR-related disorders

Performed

Weekly

Methodology

Illumina MiSeq 

Reported

Routine: 10 - 12 days from receipt of specimen

Synonyms

  • Cystic Fibrosis Carrier Screening
  • CF Population Carrier Screening Test
  • CF Carrier Screening
  • Cystic Fibrosis Mutation Analysis
  • Cystic Fibrosis Mutation Panel
  • CF DNA Analysis
  • CF Gene Mutation Panel
  • CF Molecular Genetic Testing
  • Cystic Fibrosis Genotyping
  • Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)
  • CFTR Gene
  • Classic CF
  • Inherited Disease
  • Clinical Genomics

Performing Lab

Clinical Genomics

Turnaround Time

After specimen receipt in the Clinical Genomics Lab, results are generally available within 12 days.

Add-on Eligibility

Yes, within 7 days of collection
*If DNA has been extracted previously for other Clinical Genomics tests, this is stored for 6 weeks and may qualify for add-on
Collection

Specimen Type

Blood

Specimen Volume

Adult: 5 mL (Minimum: 1 mL)
Pediatric: 1 mL (Minimum: 1 mL)

Collection Container

EDTA Whole Blood Tube (Lavender Top Vacutainer)

Pediatric Collection

3.0 mL EDTA Whole Blood Tube (Lavender Top Vacutainer)

Unacceptable Conditions

  1. Severely clotted or grossly hemolyzed specimens
  2. Specimens that have been improperly collected, stored, or transported
  • Specimens collected in preservatives other than EDTA
    • ACD tubes are accepted, but EDTA is preferred
  • Serum or plasma
  • Specimens that have been frozen
  • Commingled specimens
  1. Specimens in tubes that have been damaged or broken during transport
  2. Specimens with insufficient volume for testing
  3. Unlabeled or mislabeled specimens

Storage/Transport Temperature

Transport Instructions
Collection Location Transport Temperature Processing Required Timeframe
ED/Inpatient Room Temperature None Specimen must be received by the lab within 3 days of collection
Laboratory/Outpatient/Off-Site Room Temperature None Specimen must be received by the lab within 3 days of collection

Storage: Refrigerated

Stability (from collection to initiation)

Stability:
Prior to Extraction:
  • Room Temperature: 3 days
  • Refrigerated: 7 days
  • Frozen: Unacceptable
Extracted DNA:
  • Room Temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: Indefinitely

Laboratory Storage: 
  • Original Specimen: Refrigerated
  • Extracted DNA: Frozen
Laboratory Retention: 
  • Original Specimen: 1 month
  • Extracted DNA: 6 weeks

Collection Instructions

Labeling Instructions:
  1. When labeling blood tubes, leave a small window visible for the lab to assess the fill volume and sample integrity
  2. Ensure that the barcode is in the correct orientation.

Collection Instructions:
  1. Follow the correct order of draw when collecting with additional orders and tube types:
     
Result Interpretation

Reference Interval

Negative for the 171 variants analyzed.

Interpretive Data

Refer to report for result specific interpretation details.

The Cystic Fibrosis 171 Variant assay interrogates targeted regions of the CFTR gene to specifically identify any of 171 variants, 3 polymorphisms, and two intronic variants (Poly-T/TG) which are associated with cystic fibrosis (CF). The panel includes the updated list of 100 variants recommended by the American College of Medical Genetics for CF carrier screening (ACMG, 2023), as well as the variants included in the Illumina Cystic Fibrosis 139-Variant Assay, for a total of 171 variants. This assay will be used for both screening and diagnostics purposes.

List of the 171 CFTR variants (legacy nomenclature) detected by the assay.
M1VQ2XCFTRdele2,3Q39XE60XP67LR75X
G85E394delTTG91R405+1G>A406-1G>AE92KE92X
Q98XQ98R444delA457TAT>GD110HR117CR117H
Y122X574delA621+1G>T663delTG178RF191V711+1G>T
711+3A>G711+5G>A712-1G>TH199YP205SL206WL218X
Q220XV232D852del22935delAQ290X1078delTG330X
R334WI336KT338I1154insTCS341P1161delCR347H
R347PR352Q1213delT1248+1G>A1259insA1288insTAW401X (c.1202G>A)
W401X (c.1203G>A)1341+1G>A1461ins4A455EV456A1504delG1525-1G>A
S466X (c.1397C>G)S466X (c.1397C>A)L467P1548delGS489XS492FQ493X
I507delF508del1677delTAV520FC524XQ525X1716+1G>A
1717-8G>A1717-1G>AG542XS549RS549NS549RG551S
G551DQ552XR553XL558SA559TR560KR560T
1811+1G>A1811+1.6kbA>G1812-1G>AR560SA561E1824delAY569D
E585X1898+1G>A1898+3A>G1898+5G>TA613TG628R2143delT
2184delA2184insA2183AA>GR709XK710X2307insAL732X
2347delGR764XR785XR792X2585delTE822X2622+1G>A
E831XW846XR851X2711delT2789+5G>AQ890XY913X
L927PS945L3007delGG970RG970D3120G>A3120+1G>A
3121-1G>A3199del6T1036N3272-26A>GL1065PR1066CR1066H
L1077PW1089XY1092X (c.3276C>G)Y1092X (c.3276C>A)W1098CM1101KE1104X
S1118FR1158XR1162X3659delCS1196XW1204X (c.3611G>A)W1204X (c.3612G>A)
3791delC3849+5G>A3849+10kbC>TG1244E3876delAS1251NS1255X
3905insT3940delGW1282X4005+1G>A4016insTN1303KQ1313X
CFTRdele22,234209TGTT>AA4382delA    

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