Genetics and Newborn Screening
Baby

SCID and LSD Report Values

Below are the report values that will be included following implementation of testing for SCID and Lysosomal Storage Disorders. Please note that the second page of the newborn screening report is provided when any analyte is abnormal for the specimen. The second page provides all analytical values.

For SCID and other T-cell Lymphopenias

SCID TEST REPORT PAGE 1

DISORDER: Severe Combined Immunodeficiency (SCID) and other T-cell lymphopenias
ANALYTE: T-cell Receptor Excision Circles (TREC)
INTREPRETATION: Negative, Positive, or Invalid
NOTES FOR POSITIVE:

  1. Possible SCID or other T-cell lymphopenia. Immediate referral to pediatric immunologist for evaluation and diagnostic testing is recommended.
  2. Pre-term babies may have false-positive results for this test; please submit new specimen.

NOTE FOR INVALID SPECIMEN: Cannot amplify internal control gene; please submit new specimen.

SCID TEST REPORT PAGE 2 (ANALYTICAL VALUES)

ANALYTE: T-cell Receptor Excision Circle (TREC)
RESULT S: (calculated) TREC copies/µL whole blood
INTERPRETATION: Negative, Positive, or Invalid
NORMAL RANGE: > 300 TREC copies/µL whole blood

For Fabry, Gaucher, Krabbe, MPS-I, Niemann-Pick A/B, and Pompe

LSD TEST REPORT PAGE 1:

DISORDER: Lysosomal Storage Disorders (LSDs)
ANALYTE: LSD-associated enzymes
INTREPRETATION: Profile Negative, Profile Positive, Profile Borderline, or Profile Invalid
NOTES FOR PROFILE POSITIVE :

  1. Possible Lysosomal Storage Disorder.  Immediate referral to metabolic specialist for evaluation and diagnostic testing is recommended.
  2. Possible Krabbe Disease.  Specimen referred for GALC DNA analysis. Additional report to follow.

NOTE FOR PROFILE BORDERLINE:  Reduced enzyme activity; please submit a new specimen.
NOTE FOR PROFILE INVALID:   Inconsistent test result; please submit a new specimen.
ADDITIONAL FOOTNOTE ON PAGE 1:
Lysosomal Storage Disorders (LSDs) are screened by measuring the activities of the enzymes associated with the following diseases:  Gaucher, beta-glucocerebrosidase (ABG); Niemann-Pick A/B, acid sphingomyelinase (ASM); Pompe, alpha-glucosidase (GAA); Krabbe, galactocerebrosidase (GALC); Fabry, alpha-galactosidase (GLA); Mucopolysaccharidosis type I, alpha- iduronidase (IDUA).

LSD TEST REPORT PAGE 2 (ANALYTICAL VALUES):

ANALYTES:  ABG, ASM, GAA, GALC, GLA, IDUA
RESULT S:  (calculated) % of daily median activity (for each enzyme)
INTERPRETATION:  Negative, Positive, Borderline, or Invalid
NORMAL RANGE:  > ## % of daily median activity (varies with enzyme)

For Krabbe Disease following receipt of report on referred GALC DNA analysis

AMENDED LSD TEST REPORT PAGE 1:

DISORDER:  Lysosomal Storage Disorders (LSDs)
ANALYTE:  LSD-associated enzymes
INTREPRETATION:  Profile Positive
NOTES FOR PROFILE POSITIVE:

  1. Results of GALC gene analysis by Mayo Medical Laboratories indicated normal DNA sequence and recommended no further follow-up at this time.  For guidance on patient management and a full account of Krabbe DNA analysis, refer to Mayo Medical Laboratories’ report on this patient.
  2. Results of GALC gene analysis by Mayo Medical Laboratories indicated detection of benign DNA variant(s) and recommended no further follow-up at this time.  For guidance on patient management and a full account of Krabbe DNA analysis, refer to Mayo Medical Laboratories’ report on this patient.
  3. Results of GALC gene analysis by Mayo Medical Laboratories indicated detection of DNA variant(s) of uncertain significance and recommended referral to metabolic and genetic specialists for further evaluation and possible diagnostic testing.  For guidance on patient management and a full account of Krabbe DNA analysis, refer to Mayo Medical Laboratories’ report on this patient.
  4. Results of GALC gene analysis by Mayo Medical Laboratories indicated detection of deleterious DNA variant(s), suggesting possible Krabbe Disease, and recommended immediate referral to metabolic and genetic specialists for evaluation and diagnostic testing.  For guidance on patient management and a full account of Krabbe DNA analysis, refer to Mayo Medical Laboratories’ report on this patient.
  5. Results of GALC gene analysis by Mayo Medical Laboratories indicated detection of highly deleterious DNA variants, suggesting possible Krabbe Disease, and recommended immediate referral to metabolic and genetic specialists for evaluation and diagnostic testing.  For guidance on patient management and a full account of Krabbe DNA analysis, refer to Mayo Medical Laboratories’ report on this patient.
  6. DNA analysis could not be completed by reference laboratory.  Immediate referral to metabolic specialist for evaluation and diagnostic testing is recommended.  For full accounting, refer to Mayo Medical Laboratories’ report on this patient.

ADDITIONAL FOOTNOTE ON PAGE 1:
Lysosomal Storage Disorders (LSDs) are screened by measuring the activities of the enzymes associated with the following diseases:  Gaucher, beta-glucocerebrosidase (ABG); Niemann-Pick A/B, acid sphingomyelinase (ASM); Pompe, alpha-glucosidase (GAA); Krabbe, galactocerebrosidase (GALC); Fabry, alpha-galactosidase (GLA); Mucopolysaccharidosis type I, alpha- iduronidase (IDUA).

Note:  Page 2 (analytical values) of the amended report is unchanged from the initial report.

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