Dr. Joyce Porto Neurologist & Neurogeneticist

Clinical Services

Neurogenetics Service

Genetic evaluation and testing guidance for neurodegenerative, neuromuscular, and cerebrovascular conditions, integrated with genetic counseling.

For Patients & Families

What neurogenetics is

Neurogenetics is the study of how inherited genetic changes contribute to conditions affecting the brain, nerves, and muscles. For some neurological conditions, a genetic cause can now be identified — information that may help clarify a diagnosis, estimate risk to other family members, or guide how a condition is managed over time.

This service brings genetic evaluation into the neurology consultation itself, rather than treating it as a separate referral elsewhere.

Who may benefit

A neurogenetics evaluation may be worth considering if you or a family member have:

  • A neurological condition that runs in the family, or that appeared earlier in life than typically expected
  • A neurodegenerative condition (such as certain forms of dementia, parkinsonism, or ataxia) without a clear cause identified so far
  • A neuromuscular condition, such as unexplained muscle weakness or a suspected muscular dystrophy
  • A stroke at a young age, or a stroke without the usual risk factors
  • A relative with a known genetic neurological diagnosis

Not every patient in these situations will need or benefit from genetic testing — that is part of what the consultation is for.

What to expect during consultation

A first visit typically involves:

  1. A detailed personal and family medical history, often spanning several generations
  2. A neurological examination
  3. A discussion of whether genetic testing is appropriate, and if so, which approach fits your situation
  4. If testing is pursued, an explanation of what the test can and cannot tell you, before any sample is collected
  5. A follow-up visit to discuss results in person, with time for questions

Genetic counseling is part of this process throughout — not an afterthought once a result arrives.

Testing is chosen individually, not off a menu

There is no single genetic test that answers every question — the right approach depends on the condition suspected, the family history, and what has already been ruled out. A full explanation of how this works is on the Genetic Testing, Explained page. Recommendations regarding testing strategy, turnaround time, and estimated cost are discussed individually during consultation, since they depend on your specific clinical presentation and the most appropriate testing approach.

A note on how testing is currently performed

Genetic testing infrastructure in the Philippines is still developing. Depending on the clinical situation, testing may be coordinated through established laboratories overseas. This can mean results take longer than a routine local lab test — timelines are discussed in advance, so there are no surprises partway through the process.

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Reach out to schedule a consultation with Dr. Porto.

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For Referring Physicians

Scope of referrals

This service accepts referrals for adult patients with suspected genetic contributions to:

  • Neurodegenerative disease (early-onset dementia, atypical parkinsonism, hereditary ataxia, motor neuron disease)
  • Neuromuscular disease (muscular dystrophies, myopathies, hereditary neuropathies)
  • Cerebrovascular disease with a suspected monogenic or hereditary basis, including early-onset and cryptogenic stroke
  • Known or suspected hereditary neurological syndromes requiring confirmatory or cascade testing

Suggested referral indications

  • Neurological disease onset earlier than typical for the phenotype
  • A family history consistent with a Mendelian or otherwise heritable pattern
  • Atypical or treatment-refractory presentations where a genetic etiology remains on the differential
  • A need for cascade testing in relatives of a patient with an established genetic diagnosis
  • Requests for reproductive or family-planning counseling related to a known or suspected hereditary neurological condition

What to include in a referral

To make the first visit as productive as possible, referrals are most useful when they include:

  • Presenting neurological findings and relevant exam documentation
  • Prior work-up already completed (imaging, EMG/NCS, laboratory studies, prior genetic testing if any)
  • A three-generation family history where available
  • Specific clinical question(s) prompting the referral

Testing strategy overview

Testing strategy is selected according to phenotype, prior work-up, and pretest probability, and may include:

  • Targeted single-gene testing, when a specific clinical diagnosis is strongly suspected
  • Gene panels, for phenotypes with multiple plausible genetic causes (e.g., hereditary neuropathy, limb-girdle muscular dystrophy)
  • Repeat expansion testing, for conditions such as hereditary ataxias or myotonic dystrophy where standard sequencing is insufficient
  • Whole exome sequencing, for broader or atypical phenotypes without a clear candidate gene
  • Whole genome sequencing, when structural or non-coding variation is suspected and exome sequencing has been uninformative
  • Long-read sequencing, selectively, for repeat expansions or structurally complex loci that are difficult to resolve with short-read methods

Testing is intended to help clarify diagnosis, inform recurrence risk, guide management, or support family counseling — it is not always possible to reach a definitive genetic diagnosis, and this is discussed with patients as part of informed consent.

An integrated service, not a laboratory referral

This is a clinical neurogenetics service: evaluation, pretest counseling, test selection, and result interpretation are handled within the same continuity of care, in collaboration with the referring physician rather than as a one-way handoff. Co-management is welcomed and, in most cases, preferred.

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