One EDTA blood tube containing a minimum 1mL whole blood can be used to perform all molecular genetic tests for Krabbe disease; no need to draw additional EDTA tube for each molecular genetic test. For infants under 4 weeks of age, blood sample from heel- or finger-stick collected in EDTA micro sample tube / microtainer is accepted (a minimum 1mL required). Alternatively, buccal swabs can be accepted for testing. If sending a sample to arrive Friday or Saturday, please call the molecular genetics laboratory at 614-722-5321 to inform.

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic. Please send available clinical information with the Requisition Form.

This test sequences the entire coding regions of the GALC gene by Sanger sequencing method. This test will be performed as a STAT testing, with expected result turnaround time of 7 days or less. For evaluation of newborns with positive newborn screening for Krabbe disease, it is recommended to concurrently order the GALC common 30-kb deletion detection analysis by PCR (test code: KDGALCCD) along with this test.

Krabbe disease is an autosomal recessive lysosomal storage disorder resulting from deficiency of the galactocerebrosidase enzyme encoded by the GALC gene. In almost all patients, deficient galactocerebrosidase enzyme activity (0-5% of normal activity) is seen. About 85-90% of patients with Krabbe disease have infantile-onset form, while the remaining 10-15% of patients has later-onset form of the disease. Infantile-onset (classic) form is characterized by presentation within the first 6 months of life with extreme irritability, spasticity, and developmental delay, and it causes progressive motor and neurologic deterioration and death before age two years. Later onset (late-infantile, juvenile, or adult-onset) forms have less severe disease severity and slower progression. The most common pathogenic variant in the GALC gene seen in patients with Krabbe disease is the 30-kb deletion involving exons 11 through 17, which accounts for about 45% of the pathogenic alleles in European ancestry population and about 35% of the pathogenic alleles in Mexican ancestry population. The majority of remaining pathogenic alleles in the GALC gene are smaller sequence variants detectable by GALC gene sequencing. About 55-65% of patients with Krabbe disease have a pathogenic variant detectable by GALC gene sequencing. 

If results are negative or only one pathogenic variant is detected by GALC 30-kb deletion detection and GALC gene sequencing analyses, then reflex to GALC comprehensive deletion/duplication analysis by MLPA (test code: KDGALCDD) and PSAP gene sequencing (test code: KDPSAPSEQ) can be requested. Rare deletion/duplication in the GALC gene that cannot be detected by the GALC common deletion detection or the GALC gene sequencing analyses have been reported in several patients with Krabbe disease, and pathogenic sequencing variant in both alleles of the PSAP gene has also been reported in a rare case of Krabbe disease. If reflex to GALC comprehensive deletion/duplication analysis by MLPA and/or PSAP gene sequencing are desired, please contact the laboratory or indicate this on the lab order.

One EDTA blood tube containing a minimum 1mL whole blood can be used to perform all molecular genetic tests for Krabbe disease; no need to draw additional EDTA tube for each molecular genetic test. For infants under 4 weeks of age, blood sample from heel- or finger-stick collected in EDTA micro sample tube / microtainer is accepted (a minimum 1mL required). Alternatively, buccal swabs can be accepted for testing. If sending a sample to arrive Friday or Saturday, please call the molecular genetics laboratory at 614-722-5321 to inform.

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic. Please send available clinical information with the Requisition Form.

This test sequences the entire coding regions of the GALC gene by Sanger sequencing method. This test will be performed as a STAT testing, with expected result turnaround time of 7 days or less. For evaluation of newborns with positive newborn screening for Krabbe disease, it is recommended to concurrently order the GALC common 30-kb deletion detection analysis by PCR (test code: KDGALCCD) along with this test.

Krabbe disease is an autosomal recessive lysosomal storage disorder resulting from deficiency of the galactocerebrosidase enzyme encoded by the GALC gene. In almost all patients, deficient galactocerebrosidase enzyme activity (0-5% of normal activity) is seen. About 85-90% of patients with Krabbe disease have infantile-onset form, while the remaining 10-15% of patients has later-onset form of the disease. Infantile-onset (classic) form is characterized by presentation within the first 6 months of life with extreme irritability, spasticity, and developmental delay, and it causes progressive motor and neurologic deterioration and death before age two years. Later onset (late-infantile, juvenile, or adult-onset) forms have less severe disease severity and slower progression. The most common pathogenic variant in the GALC gene seen in patients with Krabbe disease is the 30-kb deletion involving exons 11 through 17, which accounts for about 45% of the pathogenic alleles in European ancestry population and about 35% of the pathogenic alleles in Mexican ancestry population. The majority of remaining pathogenic alleles in the GALC gene are smaller sequence variants detectable by GALC gene sequencing. About 55-65% of patients with Krabbe disease have a pathogenic variant detectable by GALC gene sequencing. 

If results are negative or only one pathogenic variant is detected by GALC 30-kb deletion detection and GALC gene sequencing analyses, then reflex to GALC comprehensive deletion/duplication analysis by MLPA (test code: KDGALCDD) and PSAP gene sequencing (test code: KDPSAPSEQ) can be requested. Rare deletion/duplication in the GALC gene that cannot be detected by the GALC common deletion detection or the GALC gene sequencing analyses have been reported in several patients with Krabbe disease, and pathogenic sequencing variant in both alleles of the PSAP gene has also been reported in a rare case of Krabbe disease. If reflex to GALC comprehensive deletion/duplication analysis by MLPA and/or PSAP gene sequencing are desired, please contact the laboratory or indicate this on the lab order.

This test sequences the entire coding regions of the GALC gene by Sanger sequencing method. This test will be performed as a STAT testing, with expected result turnaround time of 7 days or less. For evaluation of newborns with positive newborn screening for Krabbe disease, it is recommended to concurrently order the GALC common 30-kb deletion detection analysis by PCR (test code: KDGALCCD) along with this test.

Krabbe disease is an autosomal recessive lysosomal storage disorder resulting from deficiency of the galactocerebrosidase enzyme encoded by the GALC gene. In almost all patients, deficient galactocerebrosidase enzyme activity (0-5% of normal activity) is seen. About 85-90% of patients with Krabbe disease have infantile-onset form, while the remaining 10-15% of patients has later-onset form of the disease. Infantile-onset (classic) form is characterized by presentation within the first 6 months of life with extreme irritability, spasticity, and developmental delay, and it causes progressive motor and neurologic deterioration and death before age two years. Later onset (late-infantile, juvenile, or adult-onset) forms have less severe disease severity and slower progression. The most common pathogenic variant in the GALC gene seen in patients with Krabbe disease is the 30-kb deletion involving exons 11 through 17, which accounts for about 45% of the pathogenic alleles in European ancestry population and about 35% of the pathogenic alleles in Mexican ancestry population. The majority of remaining pathogenic alleles in the GALC gene are smaller sequence variants detectable by GALC gene sequencing. About 55-65% of patients with Krabbe disease have a pathogenic variant detectable by GALC gene sequencing. 

If results are negative or only one pathogenic variant is detected by GALC 30-kb deletion detection and GALC gene sequencing analyses, then reflex to GALC comprehensive deletion/duplication analysis by MLPA (test code: KDGALCDD) and PSAP gene sequencing (test code: KDPSAPSEQ) can be requested. Rare deletion/duplication in the GALC gene that cannot be detected by the GALC common deletion detection or the GALC gene sequencing analyses have been reported in several patients with Krabbe disease, and pathogenic sequencing variant in both alleles of the PSAP gene has also been reported in a rare case of Krabbe disease. If reflex to GALC comprehensive deletion/duplication analysis by MLPA and/or PSAP gene sequencing are desired, please contact the laboratory or indicate this on the lab order.

One EDTA blood tube containing a minimum 1mL whole blood can be used to perform all molecular genetic tests for Krabbe disease; no need to draw additional EDTA tube for each molecular genetic test. For infants under 4 weeks of age, blood sample from heel- or finger-stick collected in EDTA micro sample tube / microtainer is accepted (a minimum 1mL required). Alternatively, buccal swabs can be accepted for testing. If sending a sample to arrive Friday or Saturday, please call the molecular genetics laboratory at 614-722-5321 to inform.

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic. Please send available clinical information with the Requisition Form.

This test sequences the entire coding regions of the GALC gene by Sanger sequencing method. This test will be performed as a STAT testing, with expected result turnaround time of 7 days or less. For evaluation of newborns with positive newborn screening for Krabbe disease, it is recommended to concurrently order the GALC common 30-kb deletion detection analysis by PCR (test code: KDGALCCD) along with this test.

Krabbe disease is an autosomal recessive lysosomal storage disorder resulting from deficiency of the galactocerebrosidase enzyme encoded by the GALC gene. In almost all patients, deficient galactocerebrosidase enzyme activity (0-5% of normal activity) is seen. About 85-90% of patients with Krabbe disease have infantile-onset form, while the remaining 10-15% of patients has later-onset form of the disease. Infantile-onset (classic) form is characterized by presentation within the first 6 months of life with extreme irritability, spasticity, and developmental delay, and it causes progressive motor and neurologic deterioration and death before age two years. Later onset (late-infantile, juvenile, or adult-onset) forms have less severe disease severity and slower progression. The most common pathogenic variant in the GALC gene seen in patients with Krabbe disease is the 30-kb deletion involving exons 11 through 17, which accounts for about 45% of the pathogenic alleles in European ancestry population and about 35% of the pathogenic alleles in Mexican ancestry population. The majority of remaining pathogenic alleles in the GALC gene are smaller sequence variants detectable by GALC gene sequencing. About 55-65% of patients with Krabbe disease have a pathogenic variant detectable by GALC gene sequencing. 

If results are negative or only one pathogenic variant is detected by GALC 30-kb deletion detection and GALC gene sequencing analyses, then reflex to GALC comprehensive deletion/duplication analysis by MLPA (test code: KDGALCDD) and PSAP gene sequencing (test code: KDPSAPSEQ) can be requested. Rare deletion/duplication in the GALC gene that cannot be detected by the GALC common deletion detection or the GALC gene sequencing analyses have been reported in several patients with Krabbe disease, and pathogenic sequencing variant in both alleles of the PSAP gene has also been reported in a rare case of Krabbe disease. If reflex to GALC comprehensive deletion/duplication analysis by MLPA and/or PSAP gene sequencing are desired, please contact the laboratory or indicate this on the lab order.