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Testing for Undiagnosed Neurogenetic Conditions

SCN1A · MECP2 · TSC1/TSC2 · 20,000+ genes (exome)

Genetic results require clinical confirmation and are interpreted together with your medical and family history. A qualified healthcare provider confirms any diagnosis — our counselors help you pick the right assay before you book.

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Medically reviewed by Dr. Robert Vance, MD, FACMG (Chief Medical Geneticist)

  • CLIA-Certified & CAP-Accredited
  • HIPAA-Compliant Quality System
  • Free Pre-Test Genetic Counselor Guidance
  • Nationwide & At-Home Sample Collection
8 tests in Undiagnosed Neurogenetic Conditions All tests A–Z →
First line

Targeted Gene Panel - Neurological

Sample:
2 mL EDTA Whole Blood
TAT:
14–21 Business Days

$650

Test factsheet

200+ genes associated with neurological disorders.

Sample requirements: 2 mL EDTA Whole Blood

Patient preparation: Follow the instructions on your collection kit.

Turnaround notes: 14-21 business days from sample receipt.

May be considered for:

  • Global developmental delay or unexplained intellectual disability
  • Early-onset epilepsy or refractory seizures
  • Progressive movement disorder or ataxia of unknown cause
  • Suspected neuromuscular disorder with negative initial workup
Confirmatory genetics

Whole Exome Sequencing (WES)

Sample:
3 mL EDTA Whole Blood
TAT:
4–6 Weeks

$1,850

Test factsheet

Comprehensive analysis of all protein-coding genes.

Sample requirements: 3 mL EDTA Whole Blood

Patient preparation: Follow the instructions on your collection kit.

Turnaround notes: 4-6 weeks; trio analysis may add 1-2 weeks when parental samples are collected.

May be considered for:

  • Global developmental delay or unexplained intellectual disability
  • Early-onset epilepsy or refractory seizures
  • Multiple congenital anomalies of unknown cause
  • Negative panel or chromosomal microarray testing
  • Progressive neurodegeneration of unknown etiology
First line

Epilepsy Gene Panel (80+ Genes)

Sample:
2 mL EDTA Whole Blood
TAT:
14–21 Business Days

$750

Test factsheet

Focused panel covering epilepsy of infancy through adulthood, including DEEs and GEFS+ genes.

Sample requirements: 2 mL EDTA Whole Blood

Patient preparation: No fasting required unless your kit insert says otherwise. Bring a photo ID and, when applicable, the clinician order and insurance card.

Turnaround notes: 14–21 Business Days

May be considered for:

  • Early-onset epilepsy or refractory seizures
  • Seizure onset under age 2
  • Developmental and epileptic encephalopathy
  • Negative metabolic or imaging workup for seizures
First line

MECP2 Rett Syndrome Analysis

Sample:
2 mL EDTA Whole Blood
TAT:
10–14 Business Days

$450

Test factsheet

Sequencing and deletion analysis of MECP2 for classic and atypical Rett syndrome.

Sample requirements: 2 mL EDTA Whole Blood

Patient preparation: No fasting required unless your kit insert says otherwise. Bring a photo ID and, when applicable, the clinician order and insurance card.

Turnaround notes: 10–14 Business Days

May be considered for:

  • Classic or atypical Rett syndrome features
  • Unexplained regression in girls after normal early development
  • Global developmental delay or unexplained intellectual disability
  • Hand stereotypies with acquired microcephaly
Reflex

TSC1/TSC2 Tuberous Sclerosis Analysis

Sample:
2 mL EDTA Whole Blood
TAT:
10–14 Business Days

$650

Test factsheet

Sequencing with deletion/duplication analysis of TSC1 and TSC2.

Sample requirements: 2 mL EDTA Whole Blood

Patient preparation: No fasting required unless your kit insert says otherwise. Bring a photo ID and, when applicable, the clinician order and insurance card.

Turnaround notes: 10–14 Business Days

May be considered for:

  • Cortical tubers, subependymal nodules or cardiac rhabdomyomas
  • Ash-leaf spots or facial angiofibromas
  • Early-onset epilepsy or refractory seizures
  • Suspected tuberous sclerosis with incomplete clinical criteria
First line

Neuromuscular Gene Panel (60+ Genes)

Sample:
2 mL EDTA Whole Blood
TAT:
14–21 Business Days

$850

Test factsheet

Panel spanning muscular dystrophies, myopathies, SMA and congenital myasthenic syndromes.

Sample requirements: 2 mL EDTA Whole Blood

Patient preparation: No fasting required unless your kit insert says otherwise. Bring a photo ID and, when applicable, the clinician order and insurance card.

Turnaround notes: 14–21 Business Days

May be considered for:

  • Unexplained weakness, hypotonia or elevated CK
  • Suspected muscular dystrophy or myopathy
  • Suspected neuromuscular disorder with negative initial workup
  • Family history of a neuromuscular condition
First line

Chromosomal Microarray (CMA)

Sample:
2 mL EDTA Whole Blood
TAT:
10–14 Business Days

$700

Test factsheet

Genome-wide copy-number analysis at submicroscopic resolution.

Sample requirements: 2 mL EDTA Whole Blood

Patient preparation: No fasting required unless your kit insert says otherwise. Bring a photo ID and, when applicable, the clinician order and insurance card.

Turnaround notes: 10–14 Business Days

May be considered for:

  • Global developmental delay or unexplained intellectual disability
  • Multiple congenital anomalies of unknown cause
  • Autism spectrum disorder with dysmorphic features
  • Early-onset epilepsy or refractory seizures
Confirmatory genetics

Trio Whole Exome Sequencing

Sample:
3 mL EDTA Whole Blood (proband + both parents)
TAT:
4–6 Weeks

$2,450

Test factsheet

Proband-plus-parents exome analysis with phenotype-driven interpretation.

Sample requirements: 3 mL EDTA Whole Blood (proband + both parents)

Patient preparation: No fasting required unless your kit insert says otherwise. Bring a photo ID and, when applicable, the clinician order and insurance card.

Turnaround notes: Parental samples increase diagnostic yield by ~15-20% versus proband-only analysis.

May be considered for:

  • Negative panel or chromosomal microarray testing
  • Global developmental delay or unexplained intellectual disability
  • Progressive neurodegeneration of unknown etiology
  • Multiple congenital anomalies of unknown cause

Clinical testing guide

This cluster supports the diagnostic workup of unexplained neurological presentations. Focused neurological panels are usually the first step; whole exome sequencing is typically considered when focused testing is non-diagnostic or the presentation spans several systems. Every booking is reviewed against the referring clinician's question.

Choosing between a panel and a single-marker test

Tests in this group answer different clinical questions. A focused single-marker or small-panel assay is usually the right starting point when the clinical question is specific; multi-gene or multi-marker panels fit when several conditions remain possible. First line assays are the usual entry point, reflex assays follow up on first-line findings, and confirmatory genetics settles an open question. Your genetic counselor confirms the right starting point against your history and prescription before anything is booked.

Before sample collection

  • Fasting: most genetic tests do not require fasting — follow the instructions on your kit insert.
  • Tube types: the required tube and volume are listed per test above (e.g. EDTA, sodium citrate, Streck).
  • Medication & anticoagulants: tell your counselor about anticoagulants, immunosuppressants or recent transfusions before the draw — never stop prescribed medication without your prescriber's advice.

Questions before booking

Should I start with a multi-gene panel or a single-marker test? ▾

A focused single-marker or small-panel assay is usually the right first step when the clinical question is specific; multi-gene or multi-marker panels fit when several conditions remain possible. Your genetic counselor reviews your history and prescription before booking to confirm the starting point, and reflex or confirmatory testing is only added when the clinical picture requires it.

Does insurance, Medicare, Medicaid or HSA/FSA cover this testing? ▾

Coverage depends on medical necessity and your plan. We support private insurance, Medicare and Medicaid billing, and self-pay by card or HSA/FSA. On request we provide CPT codes and a medical-necessity letter so your payer can complete pre-authorization before collection — final coverage decisions rest with your payer.

Can the sample be collected near me or at home? ▾

Yes. We arrange collection at patient service centers nationwide and, for eligible tests, at home through mobile phlebotomy. Your counselor confirms the correct tube, volume and any preparation instructions when the booking is verified.

Do I need a prescription or genetic counseling before testing? ▾

A clinician's order is required for most assays and always recommended. Pre-test genetic counselor guidance is included with every booking — we verify the indication, explain what the results can and cannot show, and coordinate reporting back to your care team.

Price (USD)
Turnaround
Sample

Patient preparation:

May be considered for: