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 mutations analyzed.

Interpretive Data

Refer to report for result specific interpretation details.

The Cystic Fibrosis 171 Mutation assay interrogates targeted regions of the CFTR gene to specifically identify any of 171 mutations, 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 mutations (legacy nomenclature) detected by the assay.
M1V Q2X CFTRdele2,3 Q39X E60X P67L R75X
G85E 394delTT G91R 405+1G>A 406-1G>A E92K E92X
Q98X Q98R 444delA 457TAT>G D110H R117C R117H
Y122X 574delA 621+1G>T 663delT G178R F191V 711+1G>T
711+3A>G 711+5G>A 712-1G>T H199Y P205S L206W L218X
Q220X V232D 852del22 935delA Q290X 1078delT G330X
R334W I336K T338I 1154insTC S341P 1161delC R347H
R347P R352Q 1213delT 1248+1G>A 1259insA 1288insTA W401X (c.1202G>A)
W401X (c.1203G>A) 1341+1G>A 1461ins4 A455E V456A 1504delG 1525-1G>A
S466X (c.1397C>G) S466X (c.1397C>A) L467P 1548delG S489X S492F Q493X
I507del F508del 1677delTA V520F C524X Q525X 1716+1G>A
1717-8G>A 1717-1G>A G542X S549R S549N S549R G551S
G551D Q552X R553X L558S A559T R560K R560T
1811+1G>A 1811+1.6kbA>G 1812-1G>A R560S A561E 1824delA Y569D
E585X 1898+1G>A 1898+3A>G 1898+5G>T A613T G628R 2143delT
2184delA 2184insA 2183AA>G R709X K710X 2307insA L732X
2347delG R764X R785X R792X 2585delT E822X 2622+1G>A
E831X W846X R851X 2711delT 2789+5G>A Q890X Y913X
L927P S945L 3007delG G970R G970D 3120G>A 3120+1G>A
3121-1G>A 3199del6 T1036N 3272-26A>G L1065P R1066C R1066H
L1077P W1089X Y1092X (c.3276C>G) Y1092X (c.3276C>A) W1098C M1101K E1104X
S1118F R1158X R1162X 3659delC S1196X W1204X (c.3611G>A) W1204X (c.3612G>A)
3791delC 3849+5G>A 3849+10kbC>T G1244E 3876delA S1251N S1255X
3905insT 3940delG W1282X 4005+1G>A 4016insT N1303K Q1313X
CFTRdele22,23 4209TGTT>AA 4382delA        
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 mutations analyzed.

Interpretive Data

Refer to report for result specific interpretation details.

The Cystic Fibrosis 171 Mutation assay interrogates targeted regions of the CFTR gene to specifically identify any of 171 mutations, 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 mutations (legacy nomenclature) detected by the assay.
M1V Q2X CFTRdele2,3 Q39X E60X P67L R75X
G85E 394delTT G91R 405+1G>A 406-1G>A E92K E92X
Q98X Q98R 444delA 457TAT>G D110H R117C R117H
Y122X 574delA 621+1G>T 663delT G178R F191V 711+1G>T
711+3A>G 711+5G>A 712-1G>T H199Y P205S L206W L218X
Q220X V232D 852del22 935delA Q290X 1078delT G330X
R334W I336K T338I 1154insTC S341P 1161delC R347H
R347P R352Q 1213delT 1248+1G>A 1259insA 1288insTA W401X (c.1202G>A)
W401X (c.1203G>A) 1341+1G>A 1461ins4 A455E V456A 1504delG 1525-1G>A
S466X (c.1397C>G) S466X (c.1397C>A) L467P 1548delG S489X S492F Q493X
I507del F508del 1677delTA V520F C524X Q525X 1716+1G>A
1717-8G>A 1717-1G>A G542X S549R S549N S549R G551S
G551D Q552X R553X L558S A559T R560K R560T
1811+1G>A 1811+1.6kbA>G 1812-1G>A R560S A561E 1824delA Y569D
E585X 1898+1G>A 1898+3A>G 1898+5G>T A613T G628R 2143delT
2184delA 2184insA 2183AA>G R709X K710X 2307insA L732X
2347delG R764X R785X R792X 2585delT E822X 2622+1G>A
E831X W846X R851X 2711delT 2789+5G>A Q890X Y913X
L927P S945L 3007delG G970R G970D 3120G>A 3120+1G>A
3121-1G>A 3199del6 T1036N 3272-26A>G L1065P R1066C R1066H
L1077P W1089X Y1092X (c.3276C>G) Y1092X (c.3276C>A) W1098C M1101K E1104X
S1118F R1158X R1162X 3659delC S1196X W1204X (c.3611G>A) W1204X (c.3612G>A)
3791delC 3849+5G>A 3849+10kbC>T G1244E 3876delA S1251N S1255X
3905insT 3940delG W1282X 4005+1G>A 4016insT N1303K Q1313X
CFTRdele22,23 4209TGTT>AA 4382delA        

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