Determine whether NPC should be considered

Use this tool to evaluate clinical patterns and help determine whether infantile-onset NPC should be considered in your differential diagnosis.

This tool is intended to support clinical awareness and is not intended for diagnosis. It should be used for children with neurological symptoms beginning before 6 years of age.

Which current or historical visceral findings have you observed?

Select all current or historical visceral findings observed in your patient.1,2

0 out of 6 symptoms selected

*Isolated, or with neurological manifestations.1
Pulmonary infiltrates or respiratory failure in infancy.1,4

Is there a known family history of NPC IN A BIOLOGICAL RELATIVE?

Select the option that best describes your patient's family history.

RESULTS

Genetic testing for NPC MAY BE APPROPRIATE

Based on the signs and symptoms selected, it may be appropriate to order genetic testing for NPC.

NEXT STEPS
Order genetic testing at no cost

Beren will provide patients meeting certain eligibility criteria with sponsored whole genome sequencing and familial variant testing.

Refer to an NPC-experienced center

Referral to NPC-experienced centers supports diagnosis, ongoing management, and multidisciplinary care coordination.

*Isolated, or with neurological manifestations.

Pulmonary infiltrates or respiratory failure in infancy.

This tool is intended to support clinical awareness and is not intended for diagnosis. It should be used for children with neurological symptoms beginning before 6 years of age.

NEXT STEPS
Order genetic testing at no cost

Beren will provide patients meeting certain eligibility criteria with sponsored whole genome sequencing and familial variant testing.

Refer to an NPC-experienced center

Referral to NPC-experienced centers supports diagnosis, ongoing management, and multidisciplinary care coordination.

RESULTS

Additional clinical evaluation may be needed.

Based on the information provided, additional assessment is needed to determine the level of suspicion for NPC. Consider referral to an NPC-experienced center for further evaluation.

NEXT STEPS
Refer to an NPC-experienced center

Referral to NPC-experienced centers supports diagnosis, ongoing management, and multidisciplinary care coordination.

*Isolated, or with neurological manifestations.

Pulmonary infiltrates or respiratory failure in infancy.

This tool is intended to support clinical awareness and is not intended for diagnosis.
It should be used for children with neurological symptoms beginning before 6 years of age.

NEXT STEPS
Refer to an NPC-experienced center

Referral to NPC-experienced centers supports diagnosis, ongoing management, and multidisciplinary care coordination.

RESULTS

Genetic testing for NPC MAY BE APPROPRIATE

Based on the signs and symptoms selected, it may be appropriate to order genetic testing for NPC.

NEXT STEPS
Order genetic testing at no cost

Beren will provide patients meeting certain eligibility criteria with sponsored whole genome sequencing and familial variant testing.

Assessment_Tool_PDF_-_Genetic_Testing 1

Access genetic testing

Refer to an NPC-experienced center

Referral to NPC-experienced centers supports diagnosis, ongoing management, and multidisciplinary care coordination.

Assessment_Tool_PDF_-_Find_a_Specialist 1

Find a specialist

*Isolated, or with neurological manifestations.

Pulmonary infiltrates or respiratory failure in infancy.

This tool is intended to support clinical awareness and is not intended for diagnosis.
It 
should be used for child ren with neurological symptoms beginning before 6 years of age.

RESULTS

Additional clinical evaluation may be needed.

Based on the information provided, additional assessment is needed to determine the level of suspicion for NPC. Consider referral to an NPC-experienced center for further evaluation.

NEXT STEPS
Refer to an NPC-experienced center

Referral to NPC-experienced centers supports diagnosis, ongoing management, and multidisciplinary care coordination.

Assessment_Tool_PDF_-_Find_a_Specialist 2 (1)

Find a specialist

*Isolated, or with neurological manifestations.

Pulmonary infiltrates or respiratory failure in infancy.

This tool is intended to support clinical awareness and is not intended for diagnosis.
It 
should be used for child ren with neurological symptoms beginning before 6 years of age.

Stay informed about NPC

Sign up for updates and resources to help you understand NPC and what steps to consider next.

Stay informed about NPC

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